Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3727794C>ACA394550205CREBBPc.7253G>T (p.Ser2418Ile)
c.7139G>T (p.Ser2380Ile)
c.7208G>T (p.Ser2403Ile)
c.6836G>T (p.Ser2279Ile)
c.6992G>T (p.Ser2331Ile)
c.7199G>T (p.Ser2400Ile)
c.6500G>T (p.Ser2167Ile)
c.7247G>T (p.Ser2416Ile)
 dbSNP
16g.3727794C=CA2202928343CREBBPc.7253G= (p.Ser2418=)
c.7139G= (p.Ser2380=)
c.7208G= (p.Ser2403=)
c.6836G= (p.Ser2279=)
c.6992G= (p.Ser2331=)
c.7199G= (p.Ser2400=)
c.6500G= (p.Ser2167=)
c.7247G= (p.Ser2416=)
16g.3727794C>GCA394550207CREBBPc.7253G>C (p.Ser2418Thr)
c.7139G>C (p.Ser2380Thr)
c.7208G>C (p.Ser2403Thr)
c.6836G>C (p.Ser2279Thr)
c.6992G>C (p.Ser2331Thr)
c.7199G>C (p.Ser2400Thr)
c.6500G>C (p.Ser2167Thr)
c.7247G>C (p.Ser2416Thr)
 dbSNP
16g.3727794C>TCA394550206CREBBPc.7253G>A (p.Ser2418Asn)
c.7139G>A (p.Ser2380Asn)
c.7208G>A (p.Ser2403Asn)
c.6836G>A (p.Ser2279Asn)
c.6992G>A (p.Ser2331Asn)
c.7199G>A (p.Ser2400Asn)
c.6500G>A (p.Ser2167Asn)
c.7247G>A (p.Ser2416Asn)
 dbSNP
16g.3727795T>ACA394550208CREBBPc.7252A>T (p.Ser2418Cys)
c.7138A>T (p.Ser2380Cys)
c.7207A>T (p.Ser2403Cys)
c.6835A>T (p.Ser2279Cys)
c.6991A>T (p.Ser2331Cys)
c.7198A>T (p.Ser2400Cys)
c.6499A>T (p.Ser2167Cys)
c.7246A>T (p.Ser2416Cys)
 dbSNP
16g.3727795T>CCA394550209CREBBPc.7252A>G (p.Ser2418Gly)
c.7138A>G (p.Ser2380Gly)
c.7207A>G (p.Ser2403Gly)
c.6835A>G (p.Ser2279Gly)
c.6991A>G (p.Ser2331Gly)
c.7198A>G (p.Ser2400Gly)
c.6499A>G (p.Ser2167Gly)
c.7246A>G (p.Ser2416Gly)
 dbSNP
16g.3727795T>GCA394550210CREBBPc.7252A>C (p.Ser2418Arg)
c.7138A>C (p.Ser2380Arg)
c.7207A>C (p.Ser2403Arg)
c.6835A>C (p.Ser2279Arg)
c.6991A>C (p.Ser2331Arg)
c.7198A>C (p.Ser2400Arg)
c.6499A>C (p.Ser2167Arg)
c.7246A>C (p.Ser2416Arg)
16g.3727796C>ACA394550211CREBBPc.7251G>T (p.Arg2417Ser)
c.7137G>T (p.Arg2379Ser)
c.7206G>T (p.Arg2402Ser)
c.6834G>T (p.Arg2278Ser)
c.6990G>T (p.Arg2330Ser)
c.7197G>T (p.Arg2399Ser)
c.6498G>T (p.Arg2166Ser)
c.7245G>T (p.Arg2415Ser)
16g.3727796C=CA2202928344CREBBPc.7251G= (p.Arg2417=)
c.7137G= (p.Arg2379=)
c.7206G= (p.Arg2402=)
c.6834G= (p.Arg2278=)
c.6990G= (p.Arg2330=)
c.7197G= (p.Arg2399=)
c.6498G= (p.Arg2166=)
c.7245G= (p.Arg2415=)
16g.3727796C>GCA394550212CREBBPc.7251G>C (p.Arg2417Ser)
c.7137G>C (p.Arg2379Ser)
c.7206G>C (p.Arg2402Ser)
c.6834G>C (p.Arg2278Ser)
c.6990G>C (p.Arg2330Ser)
c.7197G>C (p.Arg2399Ser)
c.6498G>C (p.Arg2166Ser)
c.7245G>C (p.Arg2415Ser)
16g.3727796C>TCA493393145CREBBPc.7251G>A (p.Arg2417=)
c.7137G>A (p.Arg2379=)
c.7206G>A (p.Arg2402=)
c.6834G>A (p.Arg2278=)
c.6990G>A (p.Arg2330=)
c.7197G>A (p.Arg2399=)
c.6498G>A (p.Arg2166=)
c.7245G>A (p.Arg2415=)
 ClinVar dbSNP
16g.3727797C>ACA394550213CREBBPc.7250G>T (p.Arg2417Met)
c.7136G>T (p.Arg2379Met)
c.7205G>T (p.Arg2402Met)
c.6833G>T (p.Arg2278Met)
c.6989G>T (p.Arg2330Met)
c.7196G>T (p.Arg2399Met)
c.6497G>T (p.Arg2166Met)
c.7244G>T (p.Arg2415Met)
16g.3727797C>GCA394550214CREBBPc.7250G>C (p.Arg2417Thr)
c.7136G>C (p.Arg2379Thr)
c.7205G>C (p.Arg2402Thr)
c.6833G>C (p.Arg2278Thr)
c.6989G>C (p.Arg2330Thr)
c.7196G>C (p.Arg2399Thr)
c.6497G>C (p.Arg2166Thr)
c.7244G>C (p.Arg2415Thr)
 dbSNP gnomAD v4
16g.3727797C>TCA394550215CREBBPc.7250G>A (p.Arg2417Lys)
c.7136G>A (p.Arg2379Lys)
c.7205G>A (p.Arg2402Lys)
c.6833G>A (p.Arg2278Lys)
c.6989G>A (p.Arg2330Lys)
c.7196G>A (p.Arg2399Lys)
c.6497G>A (p.Arg2166Lys)
c.7244G>A (p.Arg2415Lys)
 dbSNP gnomAD v4
16g.3727798T>ACA394550216CREBBPc.7249A>T (p.Arg2417Trp)
c.7135A>T (p.Arg2379Trp)
c.7204A>T (p.Arg2402Trp)
c.6832A>T (p.Arg2278Trp)
c.6988A>T (p.Arg2330Trp)
c.7195A>T (p.Arg2399Trp)
c.6496A>T (p.Arg2166Trp)
c.7243A>T (p.Arg2415Trp)
16g.3727798T>CCA394550217CREBBPc.7249A>G (p.Arg2417Gly)
c.7135A>G (p.Arg2379Gly)
c.7204A>G (p.Arg2402Gly)
c.6832A>G (p.Arg2278Gly)
c.6988A>G (p.Arg2330Gly)
c.7195A>G (p.Arg2399Gly)
c.6496A>G (p.Arg2166Gly)
c.7243A>G (p.Arg2415Gly)
16g.3727798T>GCA493393147CREBBPc.7249A>C (p.Arg2417=)
c.7135A>C (p.Arg2379=)
c.7204A>C (p.Arg2402=)
c.6832A>C (p.Arg2278=)
c.6988A>C (p.Arg2330=)
c.7195A>C (p.Arg2399=)
c.6496A>C (p.Arg2166=)
c.7243A>C (p.Arg2415=)
16g.3727799G>ACA493393149CREBBPc.7248C>T (p.Ser2416=)
c.7134C>T (p.Ser2378=)
c.7203C>T (p.Ser2401=)
c.6831C>T (p.Ser2277=)
c.6987C>T (p.Ser2329=)
c.7194C>T (p.Ser2398=)
c.6495C>T (p.Ser2165=)
c.7242C>T (p.Ser2414=)
 dbSNP gnomAD v4
16g.3727799G>CCA394550218CREBBPc.7248C>G (p.Ser2416Arg)
c.7134C>G (p.Ser2378Arg)
c.7203C>G (p.Ser2401Arg)
c.6831C>G (p.Ser2277Arg)
c.6987C>G (p.Ser2329Arg)
c.7194C>G (p.Ser2398Arg)
c.6495C>G (p.Ser2165Arg)
c.7242C>G (p.Ser2414Arg)
 dbSNP
16g.3727799G=CA2202928345CREBBPc.7248C= (p.Ser2416=)
c.7134C= (p.Ser2378=)
c.7203C= (p.Ser2401=)
c.6831C= (p.Ser2277=)
c.6987C= (p.Ser2329=)
c.7194C= (p.Ser2398=)
c.6495C= (p.Ser2165=)
c.7242C= (p.Ser2414=)
16g.3727799G>TCA394550219CREBBPc.7248C>A (p.Ser2416Arg)
c.7134C>A (p.Ser2378Arg)
c.7203C>A (p.Ser2401Arg)
c.6831C>A (p.Ser2277Arg)
c.6987C>A (p.Ser2329Arg)
c.7194C>A (p.Ser2398Arg)
c.6495C>A (p.Ser2165Arg)
c.7242C>A (p.Ser2414Arg)
16g.3727800C>ACA394550220CREBBPc.7247G>T (p.Ser2416Ile)
c.7133G>T (p.Ser2378Ile)
c.7202G>T (p.Ser2401Ile)
c.6830G>T (p.Ser2277Ile)
c.6986G>T (p.Ser2329Ile)
c.7193G>T (p.Ser2398Ile)
c.6494G>T (p.Ser2165Ile)
c.7241G>T (p.Ser2414Ile)
 dbSNP
16g.3727800C>GCA394550222CREBBPc.7247G>C (p.Ser2416Thr)
c.7133G>C (p.Ser2378Thr)
c.7202G>C (p.Ser2401Thr)
c.6830G>C (p.Ser2277Thr)
c.6986G>C (p.Ser2329Thr)
c.7193G>C (p.Ser2398Thr)
c.6494G>C (p.Ser2165Thr)
c.7241G>C (p.Ser2414Thr)
 dbSNP
16g.3727800C>TCA394550221CREBBPc.7247G>A (p.Ser2416Asn)
c.7133G>A (p.Ser2378Asn)
c.7202G>A (p.Ser2401Asn)
c.6830G>A (p.Ser2277Asn)
c.6986G>A (p.Ser2329Asn)
c.7193G>A (p.Ser2398Asn)
c.6494G>A (p.Ser2165Asn)
c.7241G>A (p.Ser2414Asn)
 dbSNP
16g.3727801T>ACA394550223CREBBPc.7246A>T (p.Ser2416Cys)
c.7132A>T (p.Ser2378Cys)
c.7201A>T (p.Ser2401Cys)
c.6829A>T (p.Ser2277Cys)
c.6985A>T (p.Ser2329Cys)
c.7192A>T (p.Ser2398Cys)
c.6493A>T (p.Ser2165Cys)
c.7240A>T (p.Ser2414Cys)
16g.3727801T>CCA276970977CREBBPc.7246A>G (p.Ser2416Gly)
c.7132A>G (p.Ser2378Gly)
c.7201A>G (p.Ser2401Gly)
c.6829A>G (p.Ser2277Gly)
c.6985A>G (p.Ser2329Gly)
c.7192A>G (p.Ser2398Gly)
c.6493A>G (p.Ser2165Gly)
c.7240A>G (p.Ser2414Gly)
 dbSNP gnomAD v4
16g.3727801T>GCA394550224CREBBPc.7246A>C (p.Ser2416Arg)
c.7132A>C (p.Ser2378Arg)
c.7201A>C (p.Ser2401Arg)
c.6829A>C (p.Ser2277Arg)
c.6985A>C (p.Ser2329Arg)
c.7192A>C (p.Ser2398Arg)
c.6493A>C (p.Ser2165Arg)
c.7240A>C (p.Ser2414Arg)
 gnomAD v4
16g.3727801T=CA2202928346CREBBPc.7246A= (p.Ser2416=)
c.7132A= (p.Ser2378=)
c.7201A= (p.Ser2401=)
c.6829A= (p.Ser2277=)
c.6985A= (p.Ser2329=)
c.7192A= (p.Ser2398=)
c.6493A= (p.Ser2165=)
c.7240A= (p.Ser2414=)
16g.3727802G>ACA493393159CREBBPc.7245C>T (p.Pro2415=)
c.7131C>T (p.Pro2377=)
c.7200C>T (p.Pro2400=)
c.6828C>T (p.Pro2276=)
c.6984C>T (p.Pro2328=)
c.7191C>T (p.Pro2397=)
c.6492C>T (p.Pro2164=)
c.7239C>T (p.Pro2413=)
 ClinVar dbSNP
16g.3727802G>CCA493393158CREBBPc.7245C>G (p.Pro2415=)
c.7131C>G (p.Pro2377=)
c.7200C>G (p.Pro2400=)
c.6828C>G (p.Pro2276=)
c.6984C>G (p.Pro2328=)
c.7191C>G (p.Pro2397=)
c.6492C>G (p.Pro2164=)
c.7239C>G (p.Pro2413=)
16g.3727802G=CA2202928347CREBBPc.7245C= (p.Pro2415=)
c.7131C= (p.Pro2377=)
c.7200C= (p.Pro2400=)
c.6828C= (p.Pro2276=)
c.6984C= (p.Pro2328=)
c.7191C= (p.Pro2397=)
c.6492C= (p.Pro2164=)
c.7239C= (p.Pro2413=)
16g.3727802G>TCA493393156CREBBPc.7245C>A (p.Pro2415=)
c.7131C>A (p.Pro2377=)
c.7200C>A (p.Pro2400=)
c.6828C>A (p.Pro2276=)
c.6984C>A (p.Pro2328=)
c.7191C>A (p.Pro2397=)
c.6492C>A (p.Pro2164=)
c.7239C>A (p.Pro2413=)
16g.3727805_3727806delCA2731838710CREBBPc.7244_7245del (p.Pro2415GlnfsTer?)
c.7130_7131del (p.Pro2377GlnfsTer?)
c.7199_7200del (p.Pro2400GlnfsTer?)
c.6827_6828del (p.Pro2276GlnfsTer?)
c.6983_6984del (p.Pro2328GlnfsTer?)
c.7190_7191del (p.Pro2397GlnfsTer?)
c.6491_6492del (p.Pro2164GlnfsTer?)
c.7238_7239del (p.Pro2413GlnfsTer?)
 dbSNP
16g.3727803G>ACA394550225CREBBPc.7244C>T (p.Pro2415Leu)
c.7130C>T (p.Pro2377Leu)
c.7199C>T (p.Pro2400Leu)
c.6827C>T (p.Pro2276Leu)
c.6983C>T (p.Pro2328Leu)
c.7190C>T (p.Pro2397Leu)
c.6491C>T (p.Pro2164Leu)
c.7238C>T (p.Pro2413Leu)
 dbSNP
16g.3727803G>CCA394550226CREBBPc.7244C>G (p.Pro2415Arg)
c.7130C>G (p.Pro2377Arg)
c.7199C>G (p.Pro2400Arg)
c.6827C>G (p.Pro2276Arg)
c.6983C>G (p.Pro2328Arg)
c.7190C>G (p.Pro2397Arg)
c.6491C>G (p.Pro2164Arg)
c.7238C>G (p.Pro2413Arg)
 dbSNP
16g.3727803G>TCA394550227CREBBPc.7244C>A (p.Pro2415His)
c.7130C>A (p.Pro2377His)
c.7199C>A (p.Pro2400His)
c.6827C>A (p.Pro2276His)
c.6983C>A (p.Pro2328His)
c.7190C>A (p.Pro2397His)
c.6491C>A (p.Pro2164His)
c.7238C>A (p.Pro2413His)
 dbSNP
16g.3727804G>ACA7868928CREBBPc.7243C>T (p.Pro2415Ser)
c.7129C>T (p.Pro2377Ser)
c.7198C>T (p.Pro2400Ser)
c.6826C>T (p.Pro2276Ser)
c.6982C>T (p.Pro2328Ser)
c.7189C>T (p.Pro2397Ser)
c.6490C>T (p.Pro2164Ser)
c.7237C>T (p.Pro2413Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727804G>CCA394550228CREBBPc.7243C>G (p.Pro2415Ala)
c.7129C>G (p.Pro2377Ala)
c.7198C>G (p.Pro2400Ala)
c.6826C>G (p.Pro2276Ala)
c.6982C>G (p.Pro2328Ala)
c.7189C>G (p.Pro2397Ala)
c.6490C>G (p.Pro2164Ala)
c.7237C>G (p.Pro2413Ala)
 dbSNP
16g.3727804G=CA2202928348CREBBPc.7243C= (p.Pro2415=)
c.7129C= (p.Pro2377=)
c.7198C= (p.Pro2400=)
c.6826C= (p.Pro2276=)
c.6982C= (p.Pro2328=)
c.7189C= (p.Pro2397=)
c.6490C= (p.Pro2164=)
c.7237C= (p.Pro2413=)
16g.3727804G>TCA394550229CREBBPc.7243C>A (p.Pro2415Thr)
c.7129C>A (p.Pro2377Thr)
c.7198C>A (p.Pro2400Thr)
c.6826C>A (p.Pro2276Thr)
c.6982C>A (p.Pro2328Thr)
c.7189C>A (p.Pro2397Thr)
c.6490C>A (p.Pro2164Thr)
c.7237C>A (p.Pro2413Thr)
 dbSNP
16g.3727805G>ACA493393164CREBBPc.7242C>T (p.Thr2414=)
c.7128C>T (p.Thr2376=)
c.7197C>T (p.Thr2399=)
c.6825C>T (p.Thr2275=)
c.6981C>T (p.Thr2327=)
c.7188C>T (p.Thr2396=)
c.6489C>T (p.Thr2163=)
c.7236C>T (p.Thr2412=)
 dbSNP
16g.3727805G>CCA493393166CREBBPc.7242C>G (p.Thr2414=)
c.7128C>G (p.Thr2376=)
c.7197C>G (p.Thr2399=)
c.6825C>G (p.Thr2275=)
c.6981C>G (p.Thr2327=)
c.7188C>G (p.Thr2396=)
c.6489C>G (p.Thr2163=)
c.7236C>G (p.Thr2412=)
16g.3727805G=CA2202928349CREBBPc.7242C= (p.Thr2414=)
c.7128C= (p.Thr2376=)
c.7197C= (p.Thr2399=)
c.6825C= (p.Thr2275=)
c.6981C= (p.Thr2327=)
c.7188C= (p.Thr2396=)
c.6489C= (p.Thr2163=)
c.7236C= (p.Thr2412=)
16g.3727805G>TCA493393167CREBBPc.7242C>A (p.Thr2414=)
c.7128C>A (p.Thr2376=)
c.7197C>A (p.Thr2399=)
c.6825C>A (p.Thr2275=)
c.6981C>A (p.Thr2327=)
c.7188C>A (p.Thr2396=)
c.6489C>A (p.Thr2163=)
c.7236C>A (p.Thr2412=)
16g.3727806G>ACA394550230CREBBPc.7241C>T (p.Thr2414Ile)
c.7127C>T (p.Thr2376Ile)
c.7196C>T (p.Thr2399Ile)
c.6824C>T (p.Thr2275Ile)
c.6980C>T (p.Thr2327Ile)
c.7187C>T (p.Thr2396Ile)
c.6488C>T (p.Thr2163Ile)
c.7235C>T (p.Thr2412Ile)
 dbSNP gnomAD v4
16g.3727806G>CCA394550231CREBBPc.7241C>G (p.Thr2414Ser)
c.7127C>G (p.Thr2376Ser)
c.7196C>G (p.Thr2399Ser)
c.6824C>G (p.Thr2275Ser)
c.6980C>G (p.Thr2327Ser)
c.7187C>G (p.Thr2396Ser)
c.6488C>G (p.Thr2163Ser)
c.7235C>G (p.Thr2412Ser)
 dbSNP gnomAD v4
16g.3727806G>TCA394550232CREBBPc.7241C>A (p.Thr2414Asn)
c.7127C>A (p.Thr2376Asn)
c.7196C>A (p.Thr2399Asn)
c.6824C>A (p.Thr2275Asn)
c.6980C>A (p.Thr2327Asn)
c.7187C>A (p.Thr2396Asn)
c.6488C>A (p.Thr2163Asn)
c.7235C>A (p.Thr2412Asn)
16g.3727807T>ACA394550235CREBBPc.7240A>T (p.Thr2414Ser)
c.7126A>T (p.Thr2376Ser)
c.7195A>T (p.Thr2399Ser)
c.6823A>T (p.Thr2275Ser)
c.6979A>T (p.Thr2327Ser)
c.7186A>T (p.Thr2396Ser)
c.6487A>T (p.Thr2163Ser)
c.7234A>T (p.Thr2412Ser)
 dbSNP
16g.3727807T>CCA394550233CREBBPc.7240A>G (p.Thr2414Ala)
c.7126A>G (p.Thr2376Ala)
c.7195A>G (p.Thr2399Ala)
c.6823A>G (p.Thr2275Ala)
c.6979A>G (p.Thr2327Ala)
c.7186A>G (p.Thr2396Ala)
c.6487A>G (p.Thr2163Ala)
c.7234A>G (p.Thr2412Ala)
 dbSNP
16g.3727807T>GCA394550234CREBBPc.7240A>C (p.Thr2414Pro)
c.7126A>C (p.Thr2376Pro)
c.7195A>C (p.Thr2399Pro)
c.6823A>C (p.Thr2275Pro)
c.6979A>C (p.Thr2327Pro)
c.7186A>C (p.Thr2396Pro)
c.6487A>C (p.Thr2163Pro)
c.7234A>C (p.Thr2412Pro)
 dbSNP
16g.3727808G>ACA7868929CREBBPc.7239C>T (p.Asn2413=)
c.7125C>T (p.Asn2375=)
c.7194C>T (p.Asn2398=)
c.6822C>T (p.Asn2274=)
c.6978C>T (p.Asn2326=)
c.7185C>T (p.Asn2395=)
c.6486C>T (p.Asn2162=)
c.7233C>T (p.Asn2411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727808G>CCA394550236CREBBPc.7239C>G (p.Asn2413Lys)
c.7125C>G (p.Asn2375Lys)
c.7194C>G (p.Asn2398Lys)
c.6822C>G (p.Asn2274Lys)
c.6978C>G (p.Asn2326Lys)
c.7185C>G (p.Asn2395Lys)
c.6486C>G (p.Asn2162Lys)
c.7233C>G (p.Asn2411Lys)
 dbSNP
16g.3727808G=CA2202928350CREBBPc.7239C= (p.Asn2413=)
c.7125C= (p.Asn2375=)
c.7194C= (p.Asn2398=)
c.6822C= (p.Asn2274=)
c.6978C= (p.Asn2326=)
c.7185C= (p.Asn2395=)
c.6486C= (p.Asn2162=)
c.7233C= (p.Asn2411=)
16g.3727808G>TCA394550237CREBBPc.7239C>A (p.Asn2413Lys)
c.7125C>A (p.Asn2375Lys)
c.7194C>A (p.Asn2398Lys)
c.6822C>A (p.Asn2274Lys)
c.6978C>A (p.Asn2326Lys)
c.7185C>A (p.Asn2395Lys)
c.6486C>A (p.Asn2162Lys)
c.7233C>A (p.Asn2411Lys)
16g.3727809T>ACA394550238CREBBPc.7238A>T (p.Asn2413Ile)
c.7124A>T (p.Asn2375Ile)
c.7193A>T (p.Asn2398Ile)
c.6821A>T (p.Asn2274Ile)
c.6977A>T (p.Asn2326Ile)
c.7184A>T (p.Asn2395Ile)
c.6485A>T (p.Asn2162Ile)
c.7232A>T (p.Asn2411Ile)
 dbSNP
16g.3727809T>CCA7868930CREBBPc.7238A>G (p.Asn2413Ser)
c.7124A>G (p.Asn2375Ser)
c.7193A>G (p.Asn2398Ser)
c.6821A>G (p.Asn2274Ser)
c.6977A>G (p.Asn2326Ser)
c.7184A>G (p.Asn2395Ser)
c.6485A>G (p.Asn2162Ser)
c.7232A>G (p.Asn2411Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.3727809T>GCA394550239CREBBPc.7238A>C (p.Asn2413Thr)
c.7124A>C (p.Asn2375Thr)
c.7193A>C (p.Asn2398Thr)
c.6821A>C (p.Asn2274Thr)
c.6977A>C (p.Asn2326Thr)
c.7184A>C (p.Asn2395Thr)
c.6485A>C (p.Asn2162Thr)
c.7232A>C (p.Asn2411Thr)
 dbSNP
16g.3727809T=CA2202928351CREBBPc.7238A= (p.Asn2413=)
c.7124A= (p.Asn2375=)
c.7193A= (p.Asn2398=)
c.6821A= (p.Asn2274=)
c.6977A= (p.Asn2326=)
c.7184A= (p.Asn2395=)
c.6485A= (p.Asn2162=)
c.7232A= (p.Asn2411=)
16g.3727810T>ACA394550240CREBBPc.7237A>T (p.Asn2413Tyr)
c.7123A>T (p.Asn2375Tyr)
c.7192A>T (p.Asn2398Tyr)
c.6820A>T (p.Asn2274Tyr)
c.6976A>T (p.Asn2326Tyr)
c.7183A>T (p.Asn2395Tyr)
c.6484A>T (p.Asn2162Tyr)
c.7231A>T (p.Asn2411Tyr)
 dbSNP
16g.3727810T>CCA394550241CREBBPc.7237A>G (p.Asn2413Asp)
c.7123A>G (p.Asn2375Asp)
c.7192A>G (p.Asn2398Asp)
c.6820A>G (p.Asn2274Asp)
c.6976A>G (p.Asn2326Asp)
c.7183A>G (p.Asn2395Asp)
c.6484A>G (p.Asn2162Asp)
c.7231A>G (p.Asn2411Asp)
 dbSNP
16g.3727810T>GCA394550242CREBBPc.7237A>C (p.Asn2413His)
c.7123A>C (p.Asn2375His)
c.7192A>C (p.Asn2398His)
c.6820A>C (p.Asn2274His)
c.6976A>C (p.Asn2326His)
c.7183A>C (p.Asn2395His)
c.6484A>C (p.Asn2162His)
c.7231A>C (p.Asn2411His)
 dbSNP
16g.3727811C>ACA493393172CREBBPc.7236G>T (p.Leu2412=)
c.7122G>T (p.Leu2374=)
c.7191G>T (p.Leu2397=)
c.6819G>T (p.Leu2273=)
c.6975G>T (p.Leu2325=)
c.7182G>T (p.Leu2394=)
c.6483G>T (p.Leu2161=)
c.7230G>T (p.Leu2410=)
16g.3727811C=CA2202928352CREBBPc.7236G= (p.Leu2412=)
c.7122G= (p.Leu2374=)
c.7191G= (p.Leu2397=)
c.6819G= (p.Leu2273=)
c.6975G= (p.Leu2325=)
c.7182G= (p.Leu2394=)
c.6483G= (p.Leu2161=)
c.7230G= (p.Leu2410=)
16g.3727811C>GCA493393174CREBBPc.7236G>C (p.Leu2412=)
c.7122G>C (p.Leu2374=)
c.7191G>C (p.Leu2397=)
c.6819G>C (p.Leu2273=)
c.6975G>C (p.Leu2325=)
c.7182G>C (p.Leu2394=)
c.6483G>C (p.Leu2161=)
c.7230G>C (p.Leu2410=)
 dbSNP gnomAD v4
16g.3727811C>TCA7868931CREBBPc.7236G>A (p.Leu2412=)
c.7122G>A (p.Leu2374=)
c.7191G>A (p.Leu2397=)
c.6819G>A (p.Leu2273=)
c.6975G>A (p.Leu2325=)
c.7182G>A (p.Leu2394=)
c.6483G>A (p.Leu2161=)
c.7230G>A (p.Leu2410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727812A>CCA394550245CREBBPc.7235T>G (p.Leu2412Arg)
c.7121T>G (p.Leu2374Arg)
c.7190T>G (p.Leu2397Arg)
c.6818T>G (p.Leu2273Arg)
c.6974T>G (p.Leu2325Arg)
c.7181T>G (p.Leu2394Arg)
c.6482T>G (p.Leu2161Arg)
c.7229T>G (p.Leu2410Arg)
16g.3727812A>GCA394550244CREBBPc.7235T>C (p.Leu2412Pro)
c.7121T>C (p.Leu2374Pro)
c.7190T>C (p.Leu2397Pro)
c.6818T>C (p.Leu2273Pro)
c.6974T>C (p.Leu2325Pro)
c.7181T>C (p.Leu2394Pro)
c.6482T>C (p.Leu2161Pro)
c.7229T>C (p.Leu2410Pro)
 dbSNP gnomAD v4
16g.3727812A>TCA394550243CREBBPc.7235T>A (p.Leu2412Gln)
c.7121T>A (p.Leu2374Gln)
c.7190T>A (p.Leu2397Gln)
c.6818T>A (p.Leu2273Gln)
c.6974T>A (p.Leu2325Gln)
c.7181T>A (p.Leu2394Gln)
c.6482T>A (p.Leu2161Gln)
c.7229T>A (p.Leu2410Gln)
 dbSNP
16g.3727813G>ACA276970991CREBBPc.7234C>T (p.Leu2412=)
c.7120C>T (p.Leu2374=)
c.7189C>T (p.Leu2397=)
c.6817C>T (p.Leu2273=)
c.6973C>T (p.Leu2325=)
c.7180C>T (p.Leu2394=)
c.6481C>T (p.Leu2161=)
c.7228C>T (p.Leu2410=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727813G>CCA394550246CREBBPc.7234C>G (p.Leu2412Val)
c.7120C>G (p.Leu2374Val)
c.7189C>G (p.Leu2397Val)
c.6817C>G (p.Leu2273Val)
c.6973C>G (p.Leu2325Val)
c.7180C>G (p.Leu2394Val)
c.6481C>G (p.Leu2161Val)
c.7228C>G (p.Leu2410Val)
 dbSNP
16g.3727813G=CA2202928353CREBBPc.7234C= (p.Leu2412=)
c.7120C= (p.Leu2374=)
c.7189C= (p.Leu2397=)
c.6817C= (p.Leu2273=)
c.6973C= (p.Leu2325=)
c.7180C= (p.Leu2394=)
c.6481C= (p.Leu2161=)
c.7228C= (p.Leu2410=)
16g.3727813G>TCA394550247CREBBPc.7234C>A (p.Leu2412Met)
c.7120C>A (p.Leu2374Met)
c.7189C>A (p.Leu2397Met)
c.6817C>A (p.Leu2273Met)
c.6973C>A (p.Leu2325Met)
c.7180C>A (p.Leu2394Met)
c.6481C>A (p.Leu2161Met)
c.7228C>A (p.Leu2410Met)
16g.3727814C>ACA394550248CREBBPc.7233G>T (p.Gln2411His)
c.7119G>T (p.Gln2373His)
c.7188G>T (p.Gln2396His)
c.6816G>T (p.Gln2272His)
c.6972G>T (p.Gln2324His)
c.7179G>T (p.Gln2393His)
c.6480G>T (p.Gln2160His)
c.7227G>T (p.Gln2409His)
 dbSNP
16g.3727814C=CA2202928354CREBBPc.7233G= (p.Gln2411=)
c.7119G= (p.Gln2373=)
c.7188G= (p.Gln2396=)
c.6816G= (p.Gln2272=)
c.6972G= (p.Gln2324=)
c.7179G= (p.Gln2393=)
c.6480G= (p.Gln2160=)
c.7227G= (p.Gln2409=)
16g.3727814C>GCA394550249CREBBPc.7233G>C (p.Gln2411His)
c.7119G>C (p.Gln2373His)
c.7188G>C (p.Gln2396His)
c.6816G>C (p.Gln2272His)
c.6972G>C (p.Gln2324His)
c.7179G>C (p.Gln2393His)
c.6480G>C (p.Gln2160His)
c.7227G>C (p.Gln2409His)
 dbSNP
16g.3727814C>TCA493393180CREBBPc.7233G>A (p.Gln2411=)
c.7119G>A (p.Gln2373=)
c.7188G>A (p.Gln2396=)
c.6816G>A (p.Gln2272=)
c.6972G>A (p.Gln2324=)
c.7179G>A (p.Gln2393=)
c.6480G>A (p.Gln2160=)
c.7227G>A (p.Gln2409=)
 dbSNP gnomAD v2 gnomAD v4
16g.3727815T>ACA394550250CREBBPc.7232A>T (p.Gln2411Leu)
c.7118A>T (p.Gln2373Leu)
c.7187A>T (p.Gln2396Leu)
c.6815A>T (p.Gln2272Leu)
c.6971A>T (p.Gln2324Leu)
c.7178A>T (p.Gln2393Leu)
c.6479A>T (p.Gln2160Leu)
c.7226A>T (p.Gln2409Leu)
16g.3727815T>CCA394550251CREBBPc.7232A>G (p.Gln2411Arg)
c.7118A>G (p.Gln2373Arg)
c.7187A>G (p.Gln2396Arg)
c.6815A>G (p.Gln2272Arg)
c.6971A>G (p.Gln2324Arg)
c.7178A>G (p.Gln2393Arg)
c.6479A>G (p.Gln2160Arg)
c.7226A>G (p.Gln2409Arg)
16g.3727815T>GCA394550252CREBBPc.7232A>C (p.Gln2411Pro)
c.7118A>C (p.Gln2373Pro)
c.7187A>C (p.Gln2396Pro)
c.6815A>C (p.Gln2272Pro)
c.6971A>C (p.Gln2324Pro)
c.7178A>C (p.Gln2393Pro)
c.6479A>C (p.Gln2160Pro)
c.7226A>C (p.Gln2409Pro)
16g.3727816G>ACA394550253CREBBPc.7231C>T (p.Gln2411Ter)
c.7117C>T (p.Gln2373Ter)
c.7186C>T (p.Gln2396Ter)
c.6814C>T (p.Gln2272Ter)
c.6970C>T (p.Gln2324Ter)
c.7177C>T (p.Gln2393Ter)
c.6478C>T (p.Gln2160Ter)
c.7225C>T (p.Gln2409Ter)
 dbSNP
16g.3727816G>CCA394550254CREBBPc.7231C>G (p.Gln2411Glu)
c.7117C>G (p.Gln2373Glu)
c.7186C>G (p.Gln2396Glu)
c.6814C>G (p.Gln2272Glu)
c.6970C>G (p.Gln2324Glu)
c.7177C>G (p.Gln2393Glu)
c.6478C>G (p.Gln2160Glu)
c.7225C>G (p.Gln2409Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.3727816G=CA2202928355CREBBPc.7231C= (p.Gln2411=)
c.7117C= (p.Gln2373=)
c.7186C= (p.Gln2396=)
c.6814C= (p.Gln2272=)
c.6970C= (p.Gln2324=)
c.7177C= (p.Gln2393=)
c.6478C= (p.Gln2160=)
c.7225C= (p.Gln2409=)
16g.3727816G>TCA394550255CREBBPc.7231C>A (p.Gln2411Lys)
c.7117C>A (p.Gln2373Lys)
c.7186C>A (p.Gln2396Lys)
c.6814C>A (p.Gln2272Lys)
c.6970C>A (p.Gln2324Lys)
c.7177C>A (p.Gln2393Lys)
c.6478C>A (p.Gln2160Lys)
c.7225C>A (p.Gln2409Lys)
 dbSNP gnomAD v4
16g.3727820delCA493393188CREBBPc.7231del (p.Gln2411SerfsTer2)
c.7117del (p.Gln2373SerfsTer2)
c.7186del (p.Gln2396SerfsTer2)
c.6814del (p.Gln2272SerfsTer2)
c.6970del (p.Gln2324SerfsTer2)
c.7177del (p.Gln2393SerfsTer2)
c.6478del (p.Gln2160SerfsTer2)
c.7225del (p.Gln2409SerfsTer2)
 COSMIC
16g.3727817G>ACA276970999CREBBPc.7230C>T (p.Pro2410=)
c.7116C>T (p.Pro2372=)
c.7185C>T (p.Pro2395=)
c.6813C>T (p.Pro2271=)
c.6969C>T (p.Pro2323=)
c.7176C>T (p.Pro2392=)
c.6477C>T (p.Pro2159=)
c.7224C>T (p.Pro2408=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727817G>CCA493393189CREBBPc.7230C>G (p.Pro2410=)
c.7116C>G (p.Pro2372=)
c.7185C>G (p.Pro2395=)
c.6813C>G (p.Pro2271=)
c.6969C>G (p.Pro2323=)
c.7176C>G (p.Pro2392=)
c.6477C>G (p.Pro2159=)
c.7224C>G (p.Pro2408=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727817G=CA2202928356CREBBPc.7230C= (p.Pro2410=)
c.7116C= (p.Pro2372=)
c.7185C= (p.Pro2395=)
c.6813C= (p.Pro2271=)
c.6969C= (p.Pro2323=)
c.7176C= (p.Pro2392=)
c.6477C= (p.Pro2159=)
c.7224C= (p.Pro2408=)
16g.3727817G>TCA493393191CREBBPc.7230C>A (p.Pro2410=)
c.7116C>A (p.Pro2372=)
c.7185C>A (p.Pro2395=)
c.6813C>A (p.Pro2271=)
c.6969C>A (p.Pro2323=)
c.7176C>A (p.Pro2392=)
c.6477C>A (p.Pro2159=)
c.7224C>A (p.Pro2408=)
 dbSNP
16g.3727818G>ACA394550256CREBBPc.7229C>T (p.Pro2410Leu)
c.7115C>T (p.Pro2372Leu)
c.7184C>T (p.Pro2395Leu)
c.6812C>T (p.Pro2271Leu)
c.6968C>T (p.Pro2323Leu)
c.7175C>T (p.Pro2392Leu)
c.6476C>T (p.Pro2159Leu)
c.7223C>T (p.Pro2408Leu)
 dbSNP
16g.3727818G>CCA394550257CREBBPc.7229C>G (p.Pro2410Arg)
c.7115C>G (p.Pro2372Arg)
c.7184C>G (p.Pro2395Arg)
c.6812C>G (p.Pro2271Arg)
c.6968C>G (p.Pro2323Arg)
c.7175C>G (p.Pro2392Arg)
c.6476C>G (p.Pro2159Arg)
c.7223C>G (p.Pro2408Arg)
 dbSNP
16g.3727818G>TCA394550258CREBBPc.7229C>A (p.Pro2410His)
c.7115C>A (p.Pro2372His)
c.7184C>A (p.Pro2395His)
c.6812C>A (p.Pro2271His)
c.6968C>A (p.Pro2323His)
c.7175C>A (p.Pro2392His)
c.6476C>A (p.Pro2159His)
c.7223C>A (p.Pro2408His)
 dbSNP
16g.3727819G>ACA394550261CREBBPc.7228C>T (p.Pro2410Ser)
c.7114C>T (p.Pro2372Ser)
c.7183C>T (p.Pro2395Ser)
c.6811C>T (p.Pro2271Ser)
c.6967C>T (p.Pro2323Ser)
c.7174C>T (p.Pro2392Ser)
c.6475C>T (p.Pro2159Ser)
c.7222C>T (p.Pro2408Ser)
 dbSNP gnomAD v4
16g.3727819G>CCA394550259CREBBPc.7228C>G (p.Pro2410Ala)
c.7114C>G (p.Pro2372Ala)
c.7183C>G (p.Pro2395Ala)
c.6811C>G (p.Pro2271Ala)
c.6967C>G (p.Pro2323Ala)
c.7174C>G (p.Pro2392Ala)
c.6475C>G (p.Pro2159Ala)
c.7222C>G (p.Pro2408Ala)
 dbSNP
16g.3727819G>TCA394550260CREBBPc.7228C>A (p.Pro2410Thr)
c.7114C>A (p.Pro2372Thr)
c.7183C>A (p.Pro2395Thr)
c.6811C>A (p.Pro2271Thr)
c.6967C>A (p.Pro2323Thr)
c.7174C>A (p.Pro2392Thr)
c.6475C>A (p.Pro2159Thr)
c.7222C>A (p.Pro2408Thr)
 dbSNP
16g.3727820G>ACA276971001CREBBPc.7227C>T (p.Leu2409=)
c.7113C>T (p.Leu2371=)
c.7182C>T (p.Leu2394=)
c.6810C>T (p.Leu2270=)
c.6966C>T (p.Leu2322=)
c.7173C>T (p.Leu2391=)
c.6474C>T (p.Leu2158=)
c.7221C>T (p.Leu2407=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727820G>CCA493393195CREBBPc.7227C>G (p.Leu2409=)
c.7113C>G (p.Leu2371=)
c.7182C>G (p.Leu2394=)
c.6810C>G (p.Leu2270=)
c.6966C>G (p.Leu2322=)
c.7173C>G (p.Leu2391=)
c.6474C>G (p.Leu2158=)
c.7221C>G (p.Leu2407=)
16g.3727820G=CA2202928357CREBBPc.7227C= (p.Leu2409=)
c.7113C= (p.Leu2371=)
c.7182C= (p.Leu2394=)
c.6810C= (p.Leu2270=)
c.6966C= (p.Leu2322=)
c.7173C= (p.Leu2391=)
c.6474C= (p.Leu2158=)
c.7221C= (p.Leu2407=)
16g.3727820G>TCA493393196CREBBPc.7227C>A (p.Leu2409=)
c.7113C>A (p.Leu2371=)
c.7182C>A (p.Leu2394=)
c.6810C>A (p.Leu2270=)
c.6966C>A (p.Leu2322=)
c.7173C>A (p.Leu2391=)
c.6474C>A (p.Leu2158=)
c.7221C>A (p.Leu2407=)
16g.3727821A>CCA394550262CREBBPc.7226T>G (p.Leu2409Arg)
c.7112T>G (p.Leu2371Arg)
c.7181T>G (p.Leu2394Arg)
c.6809T>G (p.Leu2270Arg)
c.6965T>G (p.Leu2322Arg)
c.7172T>G (p.Leu2391Arg)
c.6473T>G (p.Leu2158Arg)
c.7220T>G (p.Leu2407Arg)
16g.3727821A>GCA394550263CREBBPc.7226T>C (p.Leu2409Pro)
c.7112T>C (p.Leu2371Pro)
c.7181T>C (p.Leu2394Pro)
c.6809T>C (p.Leu2270Pro)
c.6965T>C (p.Leu2322Pro)
c.7172T>C (p.Leu2391Pro)
c.6473T>C (p.Leu2158Pro)
c.7220T>C (p.Leu2407Pro)
 dbSNP gnomAD v4
16g.3727821A>TCA394550264CREBBPc.7226T>A (p.Leu2409His)
c.7112T>A (p.Leu2371His)
c.7181T>A (p.Leu2394His)
c.6809T>A (p.Leu2270His)
c.6965T>A (p.Leu2322His)
c.7172T>A (p.Leu2391His)
c.6473T>A (p.Leu2158His)
c.7220T>A (p.Leu2407His)
 dbSNP
16g.3727822G>ACA394550265CREBBPc.7225C>T (p.Leu2409Phe)
c.7111C>T (p.Leu2371Phe)
c.7180C>T (p.Leu2394Phe)
c.6808C>T (p.Leu2270Phe)
c.6964C>T (p.Leu2322Phe)
c.7171C>T (p.Leu2391Phe)
c.6472C>T (p.Leu2158Phe)
c.7219C>T (p.Leu2407Phe)
 dbSNP
16g.3727822G>CCA394550266CREBBPc.7225C>G (p.Leu2409Val)
c.7111C>G (p.Leu2371Val)
c.7180C>G (p.Leu2394Val)
c.6808C>G (p.Leu2270Val)
c.6964C>G (p.Leu2322Val)
c.7171C>G (p.Leu2391Val)
c.6472C>G (p.Leu2158Val)
c.7219C>G (p.Leu2407Val)
 dbSNP
16g.3727822G>TCA394550267CREBBPc.7225C>A (p.Leu2409Ile)
c.7111C>A (p.Leu2371Ile)
c.7180C>A (p.Leu2394Ile)
c.6808C>A (p.Leu2270Ile)
c.6964C>A (p.Leu2322Ile)
c.7171C>A (p.Leu2391Ile)
c.6472C>A (p.Leu2158Ile)
c.7219C>A (p.Leu2407Ile)
16g.3727825_3727829delCA2695197438CREBBPc.7221_7225del (p.Met2408ProfsTer?)
c.7107_7111del (p.Met2370ProfsTer?)
c.7176_7180del (p.Met2393ProfsTer?)
c.6804_6808del (p.Met2269ProfsTer?)
c.6960_6964del (p.Met2321ProfsTer?)
c.7167_7171del (p.Met2390ProfsTer?)
c.6468_6472del (p.Met2157ProfsTer?)
c.7215_7219del (p.Met2406ProfsTer?)
 ClinVar
16g.3727823C>ACA394550268CREBBPc.7224G>T (p.Met2408Ile)
c.7110G>T (p.Met2370Ile)
c.7179G>T (p.Met2393Ile)
c.6807G>T (p.Met2269Ile)
c.6963G>T (p.Met2321Ile)
c.7170G>T (p.Met2390Ile)
c.6471G>T (p.Met2157Ile)
c.7218G>T (p.Met2406Ile)
 dbSNP
16g.3727823C=CA2202928358CREBBPc.7224G= (p.Met2408=)
c.7110G= (p.Met2370=)
c.7179G= (p.Met2393=)
c.6807G= (p.Met2269=)
c.6963G= (p.Met2321=)
c.7170G= (p.Met2390=)
c.6471G= (p.Met2157=)
c.7218G= (p.Met2406=)
16g.3727823C>GCA394550269CREBBPc.7224G>C (p.Met2408Ile)
c.7110G>C (p.Met2370Ile)
c.7179G>C (p.Met2393Ile)
c.6807G>C (p.Met2269Ile)
c.6963G>C (p.Met2321Ile)
c.7170G>C (p.Met2390Ile)
c.6471G>C (p.Met2157Ile)
c.7218G>C (p.Met2406Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.3727823C>TCA394550270CREBBPc.7224G>A (p.Met2408Ile)
c.7110G>A (p.Met2370Ile)
c.7179G>A (p.Met2393Ile)
c.6807G>A (p.Met2269Ile)
c.6963G>A (p.Met2321Ile)
c.7170G>A (p.Met2390Ile)
c.6471G>A (p.Met2157Ile)
c.7218G>A (p.Met2406Ile)
 ClinVar dbSNP
16g.3727824A>CCA394550271CREBBPc.7223T>G (p.Met2408Arg)
c.7109T>G (p.Met2370Arg)
c.7178T>G (p.Met2393Arg)
c.6806T>G (p.Met2269Arg)
c.6962T>G (p.Met2321Arg)
c.7169T>G (p.Met2390Arg)
c.6470T>G (p.Met2157Arg)
c.7217T>G (p.Met2406Arg)
16g.3727824A>GCA394550272CREBBPc.7223T>C (p.Met2408Thr)
c.7109T>C (p.Met2370Thr)
c.7178T>C (p.Met2393Thr)
c.6806T>C (p.Met2269Thr)
c.6962T>C (p.Met2321Thr)
c.7169T>C (p.Met2390Thr)
c.6470T>C (p.Met2157Thr)
c.7217T>C (p.Met2406Thr)
16g.3727824A>TCA394550273CREBBPc.7223T>A (p.Met2408Lys)
c.7109T>A (p.Met2370Lys)
c.7178T>A (p.Met2393Lys)
c.6806T>A (p.Met2269Lys)
c.6962T>A (p.Met2321Lys)
c.7169T>A (p.Met2390Lys)
c.6470T>A (p.Met2157Lys)
c.7217T>A (p.Met2406Lys)
16g.3727825T>ACA394550274CREBBPc.7222A>T (p.Met2408Leu)
c.7108A>T (p.Met2370Leu)
c.7177A>T (p.Met2393Leu)
c.6805A>T (p.Met2269Leu)
c.6961A>T (p.Met2321Leu)
c.7168A>T (p.Met2390Leu)
c.6469A>T (p.Met2157Leu)
c.7216A>T (p.Met2406Leu)
 dbSNP gnomAD v4
16g.3727825T>CCA7868932CREBBPc.7222A>G (p.Met2408Val)
c.7108A>G (p.Met2370Val)
c.7177A>G (p.Met2393Val)
c.6805A>G (p.Met2269Val)
c.6961A>G (p.Met2321Val)
c.7168A>G (p.Met2390Val)
c.6469A>G (p.Met2157Val)
c.7216A>G (p.Met2406Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727825T>GCA7868933CREBBPc.7222A>C (p.Met2408Leu)
c.7108A>C (p.Met2370Leu)
c.7177A>C (p.Met2393Leu)
c.6805A>C (p.Met2269Leu)
c.6961A>C (p.Met2321Leu)
c.7168A>C (p.Met2390Leu)
c.6469A>C (p.Met2157Leu)
c.7216A>C (p.Met2406Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727825T=CA2202928359CREBBPc.7222A= (p.Met2408=)
c.7108A= (p.Met2370=)
c.7177A= (p.Met2393=)
c.6805A= (p.Met2269=)
c.6961A= (p.Met2321=)
c.7168A= (p.Met2390=)
c.6469A= (p.Met2157=)
c.7216A= (p.Met2406=)
16g.3727826T>ACA493393202CREBBPc.7221A>T (p.Ala2407=)
c.7107A>T (p.Ala2369=)
c.7176A>T (p.Ala2392=)
c.6804A>T (p.Ala2268=)
c.6960A>T (p.Ala2320=)
c.7167A>T (p.Ala2389=)
c.6468A>T (p.Ala2156=)
c.7215A>T (p.Ala2405=)
 dbSNP
16g.3727826T>CCA493393203CREBBPc.7221A>G (p.Ala2407=)
c.7107A>G (p.Ala2369=)
c.7176A>G (p.Ala2392=)
c.6804A>G (p.Ala2268=)
c.6960A>G (p.Ala2320=)
c.7167A>G (p.Ala2389=)
c.6468A>G (p.Ala2156=)
c.7215A>G (p.Ala2405=)
16g.3727826T>GCA493393204CREBBPc.7221A>C (p.Ala2407=)
c.7107A>C (p.Ala2369=)
c.7176A>C (p.Ala2392=)
c.6804A>C (p.Ala2268=)
c.6960A>C (p.Ala2320=)
c.7167A>C (p.Ala2389=)
c.6468A>C (p.Ala2156=)
c.7215A>C (p.Ala2405=)
 dbSNP gnomAD v4
16g.3727827G>ACA394550276CREBBPc.7220C>T (p.Ala2407Val)
c.7106C>T (p.Ala2369Val)
c.7175C>T (p.Ala2392Val)
c.6803C>T (p.Ala2268Val)
c.6959C>T (p.Ala2320Val)
c.7166C>T (p.Ala2389Val)
c.6467C>T (p.Ala2156Val)
c.7214C>T (p.Ala2405Val)
 dbSNP
16g.3727827G>CCA394550275CREBBPc.7220C>G (p.Ala2407Gly)
c.7106C>G (p.Ala2369Gly)
c.7175C>G (p.Ala2392Gly)
c.6803C>G (p.Ala2268Gly)
c.6959C>G (p.Ala2320Gly)
c.7166C>G (p.Ala2389Gly)
c.6467C>G (p.Ala2156Gly)
c.7214C>G (p.Ala2405Gly)
 dbSNP
16g.3727827G>TCA394550277CREBBPc.7220C>A (p.Ala2407Glu)
c.7106C>A (p.Ala2369Glu)
c.7175C>A (p.Ala2392Glu)
c.6803C>A (p.Ala2268Glu)
c.6959C>A (p.Ala2320Glu)
c.7166C>A (p.Ala2389Glu)
c.6467C>A (p.Ala2156Glu)
c.7214C>A (p.Ala2405Glu)
16g.3727828C>ACA394550278CREBBPc.7219G>T (p.Ala2407Ser)
c.7105G>T (p.Ala2369Ser)
c.7174G>T (p.Ala2392Ser)
c.6802G>T (p.Ala2268Ser)
c.6958G>T (p.Ala2320Ser)
c.7165G>T (p.Ala2389Ser)
c.6466G>T (p.Ala2156Ser)
c.7213G>T (p.Ala2405Ser)
 dbSNP
16g.3727828C>GCA394550279CREBBPc.7219G>C (p.Ala2407Pro)
c.7105G>C (p.Ala2369Pro)
c.7174G>C (p.Ala2392Pro)
c.6802G>C (p.Ala2268Pro)
c.6958G>C (p.Ala2320Pro)
c.7165G>C (p.Ala2389Pro)
c.6466G>C (p.Ala2156Pro)
c.7213G>C (p.Ala2405Pro)
 dbSNP
16g.3727828C>TCA394550280CREBBPc.7219G>A (p.Ala2407Thr)
c.7105G>A (p.Ala2369Thr)
c.7174G>A (p.Ala2392Thr)
c.6802G>A (p.Ala2268Thr)
c.6958G>A (p.Ala2320Thr)
c.7165G>A (p.Ala2389Thr)
c.6466G>A (p.Ala2156Thr)
c.7213G>A (p.Ala2405Thr)
 dbSNP gnomAD v4
16g.3727829A>CCA394550281CREBBPc.7218T>G (p.Ser2406Arg)
c.7104T>G (p.Ser2368Arg)
c.7173T>G (p.Ser2391Arg)
c.6801T>G (p.Ser2267Arg)
c.6957T>G (p.Ser2319Arg)
c.7164T>G (p.Ser2388Arg)
c.6465T>G (p.Ser2155Arg)
c.7212T>G (p.Ser2404Arg)
 dbSNP
16g.3727829A>GCA493393209CREBBPc.7218T>C (p.Ser2406=)
c.7104T>C (p.Ser2368=)
c.7173T>C (p.Ser2391=)
c.6801T>C (p.Ser2267=)
c.6957T>C (p.Ser2319=)
c.7164T>C (p.Ser2388=)
c.6465T>C (p.Ser2155=)
c.7212T>C (p.Ser2404=)
16g.3727829A>TCA394550282CREBBPc.7218T>A (p.Ser2406Arg)
c.7104T>A (p.Ser2368Arg)
c.7173T>A (p.Ser2391Arg)
c.6801T>A (p.Ser2267Arg)
c.6957T>A (p.Ser2319Arg)
c.7164T>A (p.Ser2388Arg)
c.6465T>A (p.Ser2155Arg)
c.7212T>A (p.Ser2404Arg)
 dbSNP
16g.3727830C>ACA394550283CREBBPc.7217G>T (p.Ser2406Ile)
c.7103G>T (p.Ser2368Ile)
c.7172G>T (p.Ser2391Ile)
c.6800G>T (p.Ser2267Ile)
c.6956G>T (p.Ser2319Ile)
c.7163G>T (p.Ser2388Ile)
c.6464G>T (p.Ser2155Ile)
c.7211G>T (p.Ser2404Ile)
 dbSNP
16g.3727830C>GCA394550284CREBBPc.7217G>C (p.Ser2406Thr)
c.7103G>C (p.Ser2368Thr)
c.7172G>C (p.Ser2391Thr)
c.6800G>C (p.Ser2267Thr)
c.6956G>C (p.Ser2319Thr)
c.7163G>C (p.Ser2388Thr)
c.6464G>C (p.Ser2155Thr)
c.7211G>C (p.Ser2404Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.3727830C>TCA394550285CREBBPc.7217G>A (p.Ser2406Asn)
c.7103G>A (p.Ser2368Asn)
c.7172G>A (p.Ser2391Asn)
c.6800G>A (p.Ser2267Asn)
c.6956G>A (p.Ser2319Asn)
c.7163G>A (p.Ser2388Asn)
c.6464G>A (p.Ser2155Asn)
c.7211G>A (p.Ser2404Asn)
 dbSNP
16g.3727831T>ACA394550286CREBBPc.7216A>T (p.Ser2406Cys)
c.7102A>T (p.Ser2368Cys)
c.7171A>T (p.Ser2391Cys)
c.6799A>T (p.Ser2267Cys)
c.6955A>T (p.Ser2319Cys)
c.7162A>T (p.Ser2388Cys)
c.6463A>T (p.Ser2155Cys)
c.7210A>T (p.Ser2404Cys)
16g.3727831T>CCA394550287CREBBPc.7216A>G (p.Ser2406Gly)
c.7102A>G (p.Ser2368Gly)
c.7171A>G (p.Ser2391Gly)
c.6799A>G (p.Ser2267Gly)
c.6955A>G (p.Ser2319Gly)
c.7162A>G (p.Ser2388Gly)
c.6463A>G (p.Ser2155Gly)
c.7210A>G (p.Ser2404Gly)
 dbSNP
16g.3727831T>GCA394550288CREBBPc.7216A>C (p.Ser2406Arg)
c.7102A>C (p.Ser2368Arg)
c.7171A>C (p.Ser2391Arg)
c.6799A>C (p.Ser2267Arg)
c.6955A>C (p.Ser2319Arg)
c.7162A>C (p.Ser2388Arg)
c.6463A>C (p.Ser2155Arg)
c.7210A>C (p.Ser2404Arg)
16g.3727832C>ACA394550290CREBBPc.7215G>T (p.Gln2405His)
c.7101G>T (p.Gln2367His)
c.7170G>T (p.Gln2390His)
c.6798G>T (p.Gln2266His)
c.6954G>T (p.Gln2318His)
c.7161G>T (p.Gln2387His)
c.6462G>T (p.Gln2154His)
c.7209G>T (p.Gln2403His)
 COSMIC
16g.3727832C=CA2202928360CREBBPc.7215G= (p.Gln2405=)
c.7101G= (p.Gln2367=)
c.7170G= (p.Gln2390=)
c.6798G= (p.Gln2266=)
c.6954G= (p.Gln2318=)
c.7161G= (p.Gln2387=)
c.6462G= (p.Gln2154=)
c.7209G= (p.Gln2403=)
16g.3727832C>GCA394550289CREBBPc.7215G>C (p.Gln2405His)
c.7101G>C (p.Gln2367His)
c.7170G>C (p.Gln2390His)
c.6798G>C (p.Gln2266His)
c.6954G>C (p.Gln2318His)
c.7161G>C (p.Gln2387His)
c.6462G>C (p.Gln2154His)
c.7209G>C (p.Gln2403His)
 dbSNP
16g.3727832C>TCA493393213CREBBPc.7215G>A (p.Gln2405=)
c.7101G>A (p.Gln2367=)
c.7170G>A (p.Gln2390=)
c.6798G>A (p.Gln2266=)
c.6954G>A (p.Gln2318=)
c.7161G>A (p.Gln2387=)
c.6462G>A (p.Gln2154=)
c.7209G>A (p.Gln2403=)
 dbSNP
16g.3727833T>ACA394550291CREBBPc.7214A>T (p.Gln2405Leu)
c.7100A>T (p.Gln2367Leu)
c.7169A>T (p.Gln2390Leu)
c.6797A>T (p.Gln2266Leu)
c.6953A>T (p.Gln2318Leu)
c.7160A>T (p.Gln2387Leu)
c.6461A>T (p.Gln2154Leu)
c.7208A>T (p.Gln2403Leu)
16g.3727833T>CCA394550292CREBBPc.7214A>G (p.Gln2405Arg)
c.7100A>G (p.Gln2367Arg)
c.7169A>G (p.Gln2390Arg)
c.6797A>G (p.Gln2266Arg)
c.6953A>G (p.Gln2318Arg)
c.7160A>G (p.Gln2387Arg)
c.6461A>G (p.Gln2154Arg)
c.7208A>G (p.Gln2403Arg)
16g.3727833T>GCA394550293CREBBPc.7214A>C (p.Gln2405Pro)
c.7100A>C (p.Gln2367Pro)
c.7169A>C (p.Gln2390Pro)
c.6797A>C (p.Gln2266Pro)
c.6953A>C (p.Gln2318Pro)
c.7160A>C (p.Gln2387Pro)
c.6461A>C (p.Gln2154Pro)
c.7208A>C (p.Gln2403Pro)
16g.3727834G>ACA394550294CREBBPc.7213C>T (p.Gln2405Ter)
c.7099C>T (p.Gln2367Ter)
c.7168C>T (p.Gln2390Ter)
c.6796C>T (p.Gln2266Ter)
c.6952C>T (p.Gln2318Ter)
c.7159C>T (p.Gln2387Ter)
c.6460C>T (p.Gln2154Ter)
c.7207C>T (p.Gln2403Ter)
 dbSNP
16g.3727834G>CCA394550295CREBBPc.7213C>G (p.Gln2405Glu)
c.7099C>G (p.Gln2367Glu)
c.7168C>G (p.Gln2390Glu)
c.6796C>G (p.Gln2266Glu)
c.6952C>G (p.Gln2318Glu)
c.7159C>G (p.Gln2387Glu)
c.6460C>G (p.Gln2154Glu)
c.7207C>G (p.Gln2403Glu)
 ClinVar dbSNP
16g.3727834G>TCA394550296CREBBPc.7213C>A (p.Gln2405Lys)
c.7099C>A (p.Gln2367Lys)
c.7168C>A (p.Gln2390Lys)
c.6796C>A (p.Gln2266Lys)
c.6952C>A (p.Gln2318Lys)
c.7159C>A (p.Gln2387Lys)
c.6460C>A (p.Gln2154Lys)
c.7207C>A (p.Gln2403Lys)
 dbSNP
16g.3727835T>ACA394550297CREBBPc.7212A>T (p.Glu2404Asp)
c.7098A>T (p.Glu2366Asp)
c.7167A>T (p.Glu2389Asp)
c.6795A>T (p.Glu2265Asp)
c.6951A>T (p.Glu2317Asp)
c.7158A>T (p.Glu2386Asp)
c.6459A>T (p.Glu2153Asp)
c.7206A>T (p.Glu2402Asp)
 dbSNP
16g.3727835T>CCA148150CREBBPc.7212A>G (p.Glu2404=)
c.7098A>G (p.Glu2366=)
c.7167A>G (p.Glu2389=)
c.6795A>G (p.Glu2265=)
c.6951A>G (p.Glu2317=)
c.7158A>G (p.Glu2386=)
c.6459A>G (p.Glu2153=)
c.7206A>G (p.Glu2402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727835T>GCA394550298CREBBPc.7212A>C (p.Glu2404Asp)
c.7098A>C (p.Glu2366Asp)
c.7167A>C (p.Glu2389Asp)
c.6795A>C (p.Glu2265Asp)
c.6951A>C (p.Glu2317Asp)
c.7158A>C (p.Glu2386Asp)
c.6459A>C (p.Glu2153Asp)
c.7206A>C (p.Glu2402Asp)
 dbSNP
16g.3727835T=CA2202928361CREBBPc.7212A= (p.Glu2404=)
c.7098A= (p.Glu2366=)
c.7167A= (p.Glu2389=)
c.6795A= (p.Glu2265=)
c.6951A= (p.Glu2317=)
c.7158A= (p.Glu2386=)
c.6459A= (p.Glu2153=)
c.7206A= (p.Glu2402=)
16g.3727836T>ACA394550299CREBBPc.7211A>T (p.Glu2404Val)
c.7097A>T (p.Glu2366Val)
c.7166A>T (p.Glu2389Val)
c.6794A>T (p.Glu2265Val)
c.6950A>T (p.Glu2317Val)
c.7157A>T (p.Glu2386Val)
c.6458A>T (p.Glu2153Val)
c.7205A>T (p.Glu2402Val)
 dbSNP
16g.3727836T>CCA394550300CREBBPc.7211A>G (p.Glu2404Gly)
c.7097A>G (p.Glu2366Gly)
c.7166A>G (p.Glu2389Gly)
c.6794A>G (p.Glu2265Gly)
c.6950A>G (p.Glu2317Gly)
c.7157A>G (p.Glu2386Gly)
c.6458A>G (p.Glu2153Gly)
c.7205A>G (p.Glu2402Gly)
 dbSNP
16g.3727836T>GCA394550301CREBBPc.7211A>C (p.Glu2404Ala)
c.7097A>C (p.Glu2366Ala)
c.7166A>C (p.Glu2389Ala)
c.6794A>C (p.Glu2265Ala)
c.6950A>C (p.Glu2317Ala)
c.7157A>C (p.Glu2386Ala)
c.6458A>C (p.Glu2153Ala)
c.7205A>C (p.Glu2402Ala)
 dbSNP
16g.3727837C>ACA394550302CREBBPc.7210G>T (p.Glu2404Ter)
c.7096G>T (p.Glu2366Ter)
c.7165G>T (p.Glu2389Ter)
c.6793G>T (p.Glu2265Ter)
c.6949G>T (p.Glu2317Ter)
c.7156G>T (p.Glu2386Ter)
c.6457G>T (p.Glu2153Ter)
c.7204G>T (p.Glu2402Ter)
 dbSNP
16g.3727837C=CA2202928362CREBBPc.7210G= (p.Glu2404=)
c.7096G= (p.Glu2366=)
c.7165G= (p.Glu2389=)
c.6793G= (p.Glu2265=)
c.6949G= (p.Glu2317=)
c.7156G= (p.Glu2386=)
c.6457G= (p.Glu2153=)
c.7204G= (p.Glu2402=)
16g.3727837C>GCA394550303CREBBPc.7210G>C (p.Glu2404Gln)
c.7096G>C (p.Glu2366Gln)
c.7165G>C (p.Glu2389Gln)
c.6793G>C (p.Glu2265Gln)
c.6949G>C (p.Glu2317Gln)
c.7156G>C (p.Glu2386Gln)
c.6457G>C (p.Glu2153Gln)
c.7204G>C (p.Glu2402Gln)
 dbSNP
16g.3727837C>TCA279194CREBBPc.7210G>A (p.Glu2404Lys)
c.7096G>A (p.Glu2366Lys)
c.7165G>A (p.Glu2389Lys)
c.6793G>A (p.Glu2265Lys)
c.6949G>A (p.Glu2317Lys)
c.7156G>A (p.Glu2386Lys)
c.6457G>A (p.Glu2153Lys)
c.7204G>A (p.Glu2402Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3727838G>ACA7868934CREBBPc.7209C>T (p.Pro2403=)
c.7095C>T (p.Pro2365=)
c.7164C>T (p.Pro2388=)
c.6792C>T (p.Pro2264=)
c.6948C>T (p.Pro2316=)
c.7155C>T (p.Pro2385=)
c.6456C>T (p.Pro2152=)
c.7203C>T (p.Pro2401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727838G>CCA493393219CREBBPc.7209C>G (p.Pro2403=)
c.7095C>G (p.Pro2365=)
c.7164C>G (p.Pro2388=)
c.6792C>G (p.Pro2264=)
c.6948C>G (p.Pro2316=)
c.7155C>G (p.Pro2385=)
c.6456C>G (p.Pro2152=)
c.7203C>G (p.Pro2401=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727838G=CA2202928363CREBBPc.7209C= (p.Pro2403=)
c.7095C= (p.Pro2365=)
c.7164C= (p.Pro2388=)
c.6792C= (p.Pro2264=)
c.6948C= (p.Pro2316=)
c.7155C= (p.Pro2385=)
c.6456C= (p.Pro2152=)
c.7203C= (p.Pro2401=)
16g.3727838G>TCA493393220CREBBPc.7209C>A (p.Pro2403=)
c.7095C>A (p.Pro2365=)
c.7164C>A (p.Pro2388=)
c.6792C>A (p.Pro2264=)
c.6948C>A (p.Pro2316=)
c.7155C>A (p.Pro2385=)
c.6456C>A (p.Pro2152=)
c.7203C>A (p.Pro2401=)
 dbSNP
16g.3727839G>ACA394550304CREBBPc.7208C>T (p.Pro2403Leu)
c.7094C>T (p.Pro2365Leu)
c.7163C>T (p.Pro2388Leu)
c.6791C>T (p.Pro2264Leu)
c.6947C>T (p.Pro2316Leu)
c.7154C>T (p.Pro2385Leu)
c.6455C>T (p.Pro2152Leu)
c.7202C>T (p.Pro2401Leu)
 dbSNP gnomAD v4
16g.3727839G>CCA394550305CREBBPc.7208C>G (p.Pro2403Arg)
c.7094C>G (p.Pro2365Arg)
c.7163C>G (p.Pro2388Arg)
c.6791C>G (p.Pro2264Arg)
c.6947C>G (p.Pro2316Arg)
c.7154C>G (p.Pro2385Arg)
c.6455C>G (p.Pro2152Arg)
c.7202C>G (p.Pro2401Arg)
 dbSNP
16g.3727839G=CA2202928364CREBBPc.7208C= (p.Pro2403=)
c.7094C= (p.Pro2365=)
c.7163C= (p.Pro2388=)
c.6791C= (p.Pro2264=)
c.6947C= (p.Pro2316=)
c.7154C= (p.Pro2385=)
c.6455C= (p.Pro2152=)
c.7202C= (p.Pro2401=)
16g.3727839G>TCA394550306CREBBPc.7208C>A (p.Pro2403His)
c.7094C>A (p.Pro2365His)
c.7163C>A (p.Pro2388His)
c.6791C>A (p.Pro2264His)
c.6947C>A (p.Pro2316His)
c.7154C>A (p.Pro2385His)
c.6455C>A (p.Pro2152His)
c.7202C>A (p.Pro2401His)
 dbSNP
16g.3727840G>ACA394550307CREBBPc.7207C>T (p.Pro2403Ser)
c.7093C>T (p.Pro2365Ser)
c.7162C>T (p.Pro2388Ser)
c.6790C>T (p.Pro2264Ser)
c.6946C>T (p.Pro2316Ser)
c.7153C>T (p.Pro2385Ser)
c.6454C>T (p.Pro2152Ser)
c.7201C>T (p.Pro2401Ser)
 dbSNP
16g.3727840G>CCA394550308CREBBPc.7207C>G (p.Pro2403Ala)
c.7093C>G (p.Pro2365Ala)
c.7162C>G (p.Pro2388Ala)
c.6790C>G (p.Pro2264Ala)
c.6946C>G (p.Pro2316Ala)
c.7153C>G (p.Pro2385Ala)
c.6454C>G (p.Pro2152Ala)
c.7201C>G (p.Pro2401Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727840G=CA2202928365CREBBPc.7207C= (p.Pro2403=)
c.7093C= (p.Pro2365=)
c.7162C= (p.Pro2388=)
c.6790C= (p.Pro2264=)
c.6946C= (p.Pro2316=)
c.7153C= (p.Pro2385=)
c.6454C= (p.Pro2152=)
c.7201C= (p.Pro2401=)
16g.3727840G>TCA394550309CREBBPc.7207C>A (p.Pro2403Thr)
c.7093C>A (p.Pro2365Thr)
c.7162C>A (p.Pro2388Thr)
c.6790C>A (p.Pro2264Thr)
c.6946C>A (p.Pro2316Thr)
c.7153C>A (p.Pro2385Thr)
c.6454C>A (p.Pro2152Thr)
c.7201C>A (p.Pro2401Thr)
 dbSNP gnomAD v4
16g.3727841G>ACA493393224CREBBPc.7206C>T (p.Asn2402=)
c.7092C>T (p.Asn2364=)
c.7161C>T (p.Asn2387=)
c.6789C>T (p.Asn2263=)
c.6945C>T (p.Asn2315=)
c.7152C>T (p.Asn2384=)
c.6453C>T (p.Asn2151=)
c.7200C>T (p.Asn2400=)
 gnomAD v4
16g.3727841G>CCA394550310CREBBPc.7206C>G (p.Asn2402Lys)
c.7092C>G (p.Asn2364Lys)
c.7161C>G (p.Asn2387Lys)
c.6789C>G (p.Asn2263Lys)
c.6945C>G (p.Asn2315Lys)
c.7152C>G (p.Asn2384Lys)
c.6453C>G (p.Asn2151Lys)
c.7200C>G (p.Asn2400Lys)
 dbSNP
16g.3727841G>TCA394550311CREBBPc.7206C>A (p.Asn2402Lys)
c.7092C>A (p.Asn2364Lys)
c.7161C>A (p.Asn2387Lys)
c.6789C>A (p.Asn2263Lys)
c.6945C>A (p.Asn2315Lys)
c.7152C>A (p.Asn2384Lys)
c.6453C>A (p.Asn2151Lys)
c.7200C>A (p.Asn2400Lys)
16g.3727842T>ACA394550312CREBBPc.7205A>T (p.Asn2402Ile)
c.7091A>T (p.Asn2364Ile)
c.7160A>T (p.Asn2387Ile)
c.6788A>T (p.Asn2263Ile)
c.6944A>T (p.Asn2315Ile)
c.7151A>T (p.Asn2384Ile)
c.6452A>T (p.Asn2151Ile)
c.7199A>T (p.Asn2400Ile)
 dbSNP
16g.3727842T>CCA394550313CREBBPc.7205A>G (p.Asn2402Ser)
c.7091A>G (p.Asn2364Ser)
c.7160A>G (p.Asn2387Ser)
c.6788A>G (p.Asn2263Ser)
c.6944A>G (p.Asn2315Ser)
c.7151A>G (p.Asn2384Ser)
c.6452A>G (p.Asn2151Ser)
c.7199A>G (p.Asn2400Ser)
 dbSNP
16g.3727842T>GCA394550314CREBBPc.7205A>C (p.Asn2402Thr)
c.7091A>C (p.Asn2364Thr)
c.7160A>C (p.Asn2387Thr)
c.6788A>C (p.Asn2263Thr)
c.6944A>C (p.Asn2315Thr)
c.7151A>C (p.Asn2384Thr)
c.6452A>C (p.Asn2151Thr)
c.7199A>C (p.Asn2400Thr)
 dbSNP gnomAD v4
16g.3727843T>ACA394550317CREBBPc.7204A>T (p.Asn2402Tyr)
c.7090A>T (p.Asn2364Tyr)
c.7159A>T (p.Asn2387Tyr)
c.6787A>T (p.Asn2263Tyr)
c.6943A>T (p.Asn2315Tyr)
c.7150A>T (p.Asn2384Tyr)
c.6451A>T (p.Asn2151Tyr)
c.7198A>T (p.Asn2400Tyr)
16g.3727843T>CCA394550315CREBBPc.7204A>G (p.Asn2402Asp)
c.7090A>G (p.Asn2364Asp)
c.7159A>G (p.Asn2387Asp)
c.6787A>G (p.Asn2263Asp)
c.6943A>G (p.Asn2315Asp)
c.7150A>G (p.Asn2384Asp)
c.6451A>G (p.Asn2151Asp)
c.7198A>G (p.Asn2400Asp)
 ClinVar
16g.3727843T>GCA394550316CREBBPc.7204A>C (p.Asn2402His)
c.7090A>C (p.Asn2364His)
c.7159A>C (p.Asn2387His)
c.6787A>C (p.Asn2263His)
c.6943A>C (p.Asn2315His)
c.7150A>C (p.Asn2384His)
c.6451A>C (p.Asn2151His)
c.7198A>C (p.Asn2400His)
 dbSNP gnomAD v3 gnomAD v4
16g.3727844C>ACA493393230CREBBPc.7203G>T (p.Gly2401=)
c.7089G>T (p.Gly2363=)
c.7158G>T (p.Gly2386=)
c.6786G>T (p.Gly2262=)
c.6942G>T (p.Gly2314=)
c.7149G>T (p.Gly2383=)
c.6450G>T (p.Gly2150=)
c.7197G>T (p.Gly2399=)
 ClinVar dbSNP
16g.3727844C=CA2202928366CREBBPc.7203G= (p.Gly2401=)
c.7089G= (p.Gly2363=)
c.7158G= (p.Gly2386=)
c.6786G= (p.Gly2262=)
c.6942G= (p.Gly2314=)
c.7149G= (p.Gly2383=)
c.6450G= (p.Gly2150=)
c.7197G= (p.Gly2399=)
16g.3727844C>GCA493393232CREBBPc.7203G>C (p.Gly2401=)
c.7089G>C (p.Gly2363=)
c.7158G>C (p.Gly2386=)
c.6786G>C (p.Gly2262=)
c.6942G>C (p.Gly2314=)
c.7149G>C (p.Gly2383=)
c.6450G>C (p.Gly2150=)
c.7197G>C (p.Gly2399=)
16g.3727844C>TCA493393233CREBBPc.7203G>A (p.Gly2401=)
c.7089G>A (p.Gly2363=)
c.7158G>A (p.Gly2386=)
c.6786G>A (p.Gly2262=)
c.6942G>A (p.Gly2314=)
c.7149G>A (p.Gly2383=)
c.6450G>A (p.Gly2150=)
c.7197G>A (p.Gly2399=)
 gnomAD v4
16g.3727845C>ACA394550318CREBBPc.7202G>T (p.Gly2401Val)
c.7088G>T (p.Gly2363Val)
c.7157G>T (p.Gly2386Val)
c.6785G>T (p.Gly2262Val)
c.6941G>T (p.Gly2314Val)
c.7148G>T (p.Gly2383Val)
c.6449G>T (p.Gly2150Val)
c.7196G>T (p.Gly2399Val)
 dbSNP
16g.3727845C>GCA394550319CREBBPc.7202G>C (p.Gly2401Ala)
c.7088G>C (p.Gly2363Ala)
c.7157G>C (p.Gly2386Ala)
c.6785G>C (p.Gly2262Ala)
c.6941G>C (p.Gly2314Ala)
c.7148G>C (p.Gly2383Ala)
c.6449G>C (p.Gly2150Ala)
c.7196G>C (p.Gly2399Ala)
 dbSNP
16g.3727845C>TCA394550320CREBBPc.7202G>A (p.Gly2401Glu)
c.7088G>A (p.Gly2363Glu)
c.7157G>A (p.Gly2386Glu)
c.6785G>A (p.Gly2262Glu)
c.6941G>A (p.Gly2314Glu)
c.7148G>A (p.Gly2383Glu)
c.6449G>A (p.Gly2150Glu)
c.7196G>A (p.Gly2399Glu)
 dbSNP
16g.3727846C>ACA394550321CREBBPc.7201G>T (p.Gly2401Trp)
c.7087G>T (p.Gly2363Trp)
c.7156G>T (p.Gly2386Trp)
c.6784G>T (p.Gly2262Trp)
c.6940G>T (p.Gly2314Trp)
c.7147G>T (p.Gly2383Trp)
c.6448G>T (p.Gly2150Trp)
c.7195G>T (p.Gly2399Trp)
 dbSNP COSMIC
16g.3727846C>GCA394550322CREBBPc.7201G>C (p.Gly2401Arg)
c.7087G>C (p.Gly2363Arg)
c.7156G>C (p.Gly2386Arg)
c.6784G>C (p.Gly2262Arg)
c.6940G>C (p.Gly2314Arg)
c.7147G>C (p.Gly2383Arg)
c.6448G>C (p.Gly2150Arg)
c.7195G>C (p.Gly2399Arg)
 dbSNP
16g.3727846C>TCA394550323CREBBPc.7201G>A (p.Gly2401Arg)
c.7087G>A (p.Gly2363Arg)
c.7156G>A (p.Gly2386Arg)
c.6784G>A (p.Gly2262Arg)
c.6940G>A (p.Gly2314Arg)
c.7147G>A (p.Gly2383Arg)
c.6448G>A (p.Gly2150Arg)
c.7195G>A (p.Gly2399Arg)
 dbSNP
16g.3727847C>ACA394550324CREBBPc.7200G>T (p.Leu2400Phe)
c.7086G>T (p.Leu2362Phe)
c.7155G>T (p.Leu2385Phe)
c.6783G>T (p.Leu2261Phe)
c.6939G>T (p.Leu2313Phe)
c.7146G>T (p.Leu2382Phe)
c.6447G>T (p.Leu2149Phe)
c.7194G>T (p.Leu2398Phe)
 dbSNP gnomAD v4
16g.3727847C>GCA394550325CREBBPc.7200G>C (p.Leu2400Phe)
c.7086G>C (p.Leu2362Phe)
c.7155G>C (p.Leu2385Phe)
c.6783G>C (p.Leu2261Phe)
c.6939G>C (p.Leu2313Phe)
c.7146G>C (p.Leu2382Phe)
c.6447G>C (p.Leu2149Phe)
c.7194G>C (p.Leu2398Phe)
 dbSNP
16g.3727847C>TCA493393236CREBBPc.7200G>A (p.Leu2400=)
c.7086G>A (p.Leu2362=)
c.7155G>A (p.Leu2385=)
c.6783G>A (p.Leu2261=)
c.6939G>A (p.Leu2313=)
c.7146G>A (p.Leu2382=)
c.6447G>A (p.Leu2149=)
c.7194G>A (p.Leu2398=)
 dbSNP
16g.3727848A>CCA394550326CREBBPc.7199T>G (p.Leu2400Trp)
c.7085T>G (p.Leu2362Trp)
c.7154T>G (p.Leu2385Trp)
c.6782T>G (p.Leu2261Trp)
c.6938T>G (p.Leu2313Trp)
c.7145T>G (p.Leu2382Trp)
c.6446T>G (p.Leu2149Trp)
c.7193T>G (p.Leu2398Trp)
16g.3727848A>GCA394550327CREBBPc.7199T>C (p.Leu2400Ser)
c.7085T>C (p.Leu2362Ser)
c.7154T>C (p.Leu2385Ser)
c.6782T>C (p.Leu2261Ser)
c.6938T>C (p.Leu2313Ser)
c.7145T>C (p.Leu2382Ser)
c.6446T>C (p.Leu2149Ser)
c.7193T>C (p.Leu2398Ser)
 dbSNP
16g.3727848A>TCA394550328CREBBPc.7199T>A (p.Leu2400Ter)
c.7085T>A (p.Leu2362Ter)
c.7154T>A (p.Leu2385Ter)
c.6782T>A (p.Leu2261Ter)
c.6938T>A (p.Leu2313Ter)
c.7145T>A (p.Leu2382Ter)
c.6446T>A (p.Leu2149Ter)
c.7193T>A (p.Leu2398Ter)
16g.3727849A=CA2202928367CREBBPc.7198T= (p.Leu2400=)
c.7084T= (p.Leu2362=)
c.7153T= (p.Leu2385=)
c.6781T= (p.Leu2261=)
c.6937T= (p.Leu2313=)
c.7144T= (p.Leu2382=)
c.6445T= (p.Leu2149=)
c.7192T= (p.Leu2398=)
16g.3727849A>CCA394550329CREBBPc.7198T>G (p.Leu2400Val)
c.7084T>G (p.Leu2362Val)
c.7153T>G (p.Leu2385Val)
c.6781T>G (p.Leu2261Val)
c.6937T>G (p.Leu2313Val)
c.7144T>G (p.Leu2382Val)
c.6445T>G (p.Leu2149Val)
c.7192T>G (p.Leu2398Val)
16g.3727849A>GCA493393242CREBBPc.7198T>C (p.Leu2400=)
c.7084T>C (p.Leu2362=)
c.7153T>C (p.Leu2385=)
c.6781T>C (p.Leu2261=)
c.6937T>C (p.Leu2313=)
c.7144T>C (p.Leu2382=)
c.6445T>C (p.Leu2149=)
c.7192T>C (p.Leu2398=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727849A>TCA394550330CREBBPc.7198T>A (p.Leu2400Met)
c.7084T>A (p.Leu2362Met)
c.7153T>A (p.Leu2385Met)
c.6781T>A (p.Leu2261Met)
c.6937T>A (p.Leu2313Met)
c.7144T>A (p.Leu2382Met)
c.6445T>A (p.Leu2149Met)
c.7192T>A (p.Leu2398Met)
16g.3727850G>ACA7868935CREBBPc.7197C>T (p.His2399=)
c.7083C>T (p.His2361=)
c.7152C>T (p.His2384=)
c.6780C>T (p.His2260=)
c.6936C>T (p.His2312=)
c.7143C>T (p.His2381=)
c.6444C>T (p.His2148=)
c.7191C>T (p.His2397=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727850G>CCA394550332CREBBPc.7197C>G (p.His2399Gln)
c.7083C>G (p.His2361Gln)
c.7152C>G (p.His2384Gln)
c.6780C>G (p.His2260Gln)
c.6936C>G (p.His2312Gln)
c.7143C>G (p.His2381Gln)
c.6444C>G (p.His2148Gln)
c.7191C>G (p.His2397Gln)
 dbSNP
16g.3727850G=CA2202928368CREBBPc.7197C= (p.His2399=)
c.7083C= (p.His2361=)
c.7152C= (p.His2384=)
c.6780C= (p.His2260=)
c.6936C= (p.His2312=)
c.7143C= (p.His2381=)
c.6444C= (p.His2148=)
c.7191C= (p.His2397=)
16g.3727850G>TCA394550331CREBBPc.7197C>A (p.His2399Gln)
c.7083C>A (p.His2361Gln)
c.7152C>A (p.His2384Gln)
c.6780C>A (p.His2260Gln)
c.6936C>A (p.His2312Gln)
c.7143C>A (p.His2381Gln)
c.6444C>A (p.His2148Gln)
c.7191C>A (p.His2397Gln)
 dbSNP gnomAD v2
16g.3727851T>ACA394550333CREBBPc.7196A>T (p.His2399Leu)
c.7082A>T (p.His2361Leu)
c.7151A>T (p.His2384Leu)
c.6779A>T (p.His2260Leu)
c.6935A>T (p.His2312Leu)
c.7142A>T (p.His2381Leu)
c.6443A>T (p.His2148Leu)
c.7190A>T (p.His2397Leu)
 dbSNP
16g.3727851T>CCA394550334CREBBPc.7196A>G (p.His2399Arg)
c.7082A>G (p.His2361Arg)
c.7151A>G (p.His2384Arg)
c.6779A>G (p.His2260Arg)
c.6935A>G (p.His2312Arg)
c.7142A>G (p.His2381Arg)
c.6443A>G (p.His2148Arg)
c.7190A>G (p.His2397Arg)
16g.3727851T>GCA394550335CREBBPc.7196A>C (p.His2399Pro)
c.7082A>C (p.His2361Pro)
c.7151A>C (p.His2384Pro)
c.6779A>C (p.His2260Pro)
c.6935A>C (p.His2312Pro)
c.7142A>C (p.His2381Pro)
c.6443A>C (p.His2148Pro)
c.7190A>C (p.His2397Pro)
 dbSNP
16g.3727852G>ACA7868936CREBBPc.7195C>T (p.His2399Tyr)
c.7081C>T (p.His2361Tyr)
c.7150C>T (p.His2384Tyr)
c.6778C>T (p.His2260Tyr)
c.6934C>T (p.His2312Tyr)
c.7141C>T (p.His2381Tyr)
c.6442C>T (p.His2148Tyr)
c.7189C>T (p.His2397Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727852G>CCA394550336CREBBPc.7195C>G (p.His2399Asp)
c.7081C>G (p.His2361Asp)
c.7150C>G (p.His2384Asp)
c.6778C>G (p.His2260Asp)
c.6934C>G (p.His2312Asp)
c.7141C>G (p.His2381Asp)
c.6442C>G (p.His2148Asp)
c.7189C>G (p.His2397Asp)
 dbSNP
16g.3727852G=CA2202928369CREBBPc.7195C= (p.His2399=)
c.7081C= (p.His2361=)
c.7150C= (p.His2384=)
c.6778C= (p.His2260=)
c.6934C= (p.His2312=)
c.7141C= (p.His2381=)
c.6442C= (p.His2148=)
c.7189C= (p.His2397=)
16g.3727852G>TCA7868937CREBBPc.7195C>A (p.His2399Asn)
c.7081C>A (p.His2361Asn)
c.7150C>A (p.His2384Asn)
c.6778C>A (p.His2260Asn)
c.6934C>A (p.His2312Asn)
c.7141C>A (p.His2381Asn)
c.6442C>A (p.His2148Asn)
c.7189C>A (p.His2397Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727853T>ACA493393247CREBBPc.7194A>T (p.Gly2398=)
c.7080A>T (p.Gly2360=)
c.7149A>T (p.Gly2383=)
c.6777A>T (p.Gly2259=)
c.6933A>T (p.Gly2311=)
c.7140A>T (p.Gly2380=)
c.6441A>T (p.Gly2147=)
c.7188A>T (p.Gly2396=)
16g.3727853T>CCA7868938CREBBPc.7194A>G (p.Gly2398=)
c.7080A>G (p.Gly2360=)
c.7149A>G (p.Gly2383=)
c.6777A>G (p.Gly2259=)
c.6933A>G (p.Gly2311=)
c.7140A>G (p.Gly2380=)
c.6441A>G (p.Gly2147=)
c.7188A>G (p.Gly2396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727853T>GCA493393250CREBBPc.7194A>C (p.Gly2398=)
c.7080A>C (p.Gly2360=)
c.7149A>C (p.Gly2383=)
c.6777A>C (p.Gly2259=)
c.6933A>C (p.Gly2311=)
c.7140A>C (p.Gly2380=)
c.6441A>C (p.Gly2147=)
c.7188A>C (p.Gly2396=)
16g.3727853T=CA2202928370CREBBPc.7194A= (p.Gly2398=)
c.7080A= (p.Gly2360=)
c.7149A= (p.Gly2383=)
c.6777A= (p.Gly2259=)
c.6933A= (p.Gly2311=)
c.7140A= (p.Gly2380=)
c.6441A= (p.Gly2147=)
c.7188A= (p.Gly2396=)
16g.3727854C>ACA394550337CREBBPc.7193G>T (p.Gly2398Val)
c.7079G>T (p.Gly2360Val)
c.7148G>T (p.Gly2383Val)
c.6776G>T (p.Gly2259Val)
c.6932G>T (p.Gly2311Val)
c.7139G>T (p.Gly2380Val)
c.6440G>T (p.Gly2147Val)
c.7187G>T (p.Gly2396Val)
16g.3727854C>GCA394550339CREBBPc.7193G>C (p.Gly2398Ala)
c.7079G>C (p.Gly2360Ala)
c.7148G>C (p.Gly2383Ala)
c.6776G>C (p.Gly2259Ala)
c.6932G>C (p.Gly2311Ala)
c.7139G>C (p.Gly2380Ala)
c.6440G>C (p.Gly2147Ala)
c.7187G>C (p.Gly2396Ala)
 dbSNP
16g.3727854C>TCA394550338CREBBPc.7193G>A (p.Gly2398Glu)
c.7079G>A (p.Gly2360Glu)
c.7148G>A (p.Gly2383Glu)
c.6776G>A (p.Gly2259Glu)
c.6932G>A (p.Gly2311Glu)
c.7139G>A (p.Gly2380Glu)
c.6440G>A (p.Gly2147Glu)
c.7187G>A (p.Gly2396Glu)
 dbSNP
16g.3727855C>ACA394550340CREBBPc.7192G>T (p.Gly2398Ter)
c.7078G>T (p.Gly2360Ter)
c.7147G>T (p.Gly2383Ter)
c.6775G>T (p.Gly2259Ter)
c.6931G>T (p.Gly2311Ter)
c.7138G>T (p.Gly2380Ter)
c.6439G>T (p.Gly2147Ter)
c.7186G>T (p.Gly2396Ter)
 dbSNP COSMIC
16g.3727855C=CA2202928371CREBBPc.7192G= (p.Gly2398=)
c.7078G= (p.Gly2360=)
c.7147G= (p.Gly2383=)
c.6775G= (p.Gly2259=)
c.6931G= (p.Gly2311=)
c.7138G= (p.Gly2380=)
c.6439G= (p.Gly2147=)
c.7186G= (p.Gly2396=)
16g.3727855C>GCA394550341CREBBPc.7192G>C (p.Gly2398Arg)
c.7078G>C (p.Gly2360Arg)
c.7147G>C (p.Gly2383Arg)
c.6775G>C (p.Gly2259Arg)
c.6931G>C (p.Gly2311Arg)
c.7138G>C (p.Gly2380Arg)
c.6439G>C (p.Gly2147Arg)
c.7186G>C (p.Gly2396Arg)
 dbSNP
16g.3727855C>TCA394550342CREBBPc.7192G>A (p.Gly2398Arg)
c.7078G>A (p.Gly2360Arg)
c.7147G>A (p.Gly2383Arg)
c.6775G>A (p.Gly2259Arg)
c.6931G>A (p.Gly2311Arg)
c.7138G>A (p.Gly2380Arg)
c.6439G>A (p.Gly2147Arg)
c.7186G>A (p.Gly2396Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727856C>ACA394550343CREBBPc.7191G>T (p.Gln2397His)
c.7077G>T (p.Gln2359His)
c.7146G>T (p.Gln2382His)
c.6774G>T (p.Gln2258His)
c.6930G>T (p.Gln2310His)
c.7137G>T (p.Gln2379His)
c.6438G>T (p.Gln2146His)
c.7185G>T (p.Gln2395His)
 dbSNP gnomAD v2
16g.3727856C=CA2202928372CREBBPc.7191G= (p.Gln2397=)
c.7077G= (p.Gln2359=)
c.7146G= (p.Gln2382=)
c.6774G= (p.Gln2258=)
c.6930G= (p.Gln2310=)
c.7137G= (p.Gln2379=)
c.6438G= (p.Gln2146=)
c.7185G= (p.Gln2395=)
16g.3727856C>GCA394550344CREBBPc.7191G>C (p.Gln2397His)
c.7077G>C (p.Gln2359His)
c.7146G>C (p.Gln2382His)
c.6774G>C (p.Gln2258His)
c.6930G>C (p.Gln2310His)
c.7137G>C (p.Gln2379His)
c.6438G>C (p.Gln2146His)
c.7185G>C (p.Gln2395His)
 dbSNP gnomAD v2
16g.3727856C>TCA493393254CREBBPc.7191G>A (p.Gln2397=)
c.7077G>A (p.Gln2359=)
c.7146G>A (p.Gln2382=)
c.6774G>A (p.Gln2258=)
c.6930G>A (p.Gln2310=)
c.7137G>A (p.Gln2379=)
c.6438G>A (p.Gln2146=)
c.7185G>A (p.Gln2395=)
 dbSNP
16g.3727857T>ACA394550345CREBBPc.7190A>T (p.Gln2397Leu)
c.7076A>T (p.Gln2359Leu)
c.7145A>T (p.Gln2382Leu)
c.6773A>T (p.Gln2258Leu)
c.6929A>T (p.Gln2310Leu)
c.7136A>T (p.Gln2379Leu)
c.6437A>T (p.Gln2146Leu)
c.7184A>T (p.Gln2395Leu)
 dbSNP
16g.3727857T>CCA394550347CREBBPc.7190A>G (p.Gln2397Arg)
c.7076A>G (p.Gln2359Arg)
c.7145A>G (p.Gln2382Arg)
c.6773A>G (p.Gln2258Arg)
c.6929A>G (p.Gln2310Arg)
c.7136A>G (p.Gln2379Arg)
c.6437A>G (p.Gln2146Arg)
c.7184A>G (p.Gln2395Arg)
 dbSNP gnomAD v4
16g.3727857T>GCA394550346CREBBPc.7190A>C (p.Gln2397Pro)
c.7076A>C (p.Gln2359Pro)
c.7145A>C (p.Gln2382Pro)
c.6773A>C (p.Gln2258Pro)
c.6929A>C (p.Gln2310Pro)
c.7136A>C (p.Gln2379Pro)
c.6437A>C (p.Gln2146Pro)
c.7184A>C (p.Gln2395Pro)
16g.3727858delCA2549792249CREBBPc.7189del (p.Gln2397ArgfsTer16)
c.7075del (p.Gln2359ArgfsTer16)
c.7144del (p.Gln2382ArgfsTer16)
c.6772del (p.Gln2258ArgfsTer16)
c.6928del (p.Gln2310ArgfsTer16)
c.7135del (p.Gln2379ArgfsTer16)
c.6436del (p.Gln2146ArgfsTer16)
c.7183del (p.Gln2395ArgfsTer16)
16g.3727858G>ACA394550348CREBBPc.7189C>T (p.Gln2397Ter)
c.7075C>T (p.Gln2359Ter)
c.7144C>T (p.Gln2382Ter)
c.6772C>T (p.Gln2258Ter)
c.6928C>T (p.Gln2310Ter)
c.7135C>T (p.Gln2379Ter)
c.6436C>T (p.Gln2146Ter)
c.7183C>T (p.Gln2395Ter)
 dbSNP
16g.3727858G>CCA394550349CREBBPc.7189C>G (p.Gln2397Glu)
c.7075C>G (p.Gln2359Glu)
c.7144C>G (p.Gln2382Glu)
c.6772C>G (p.Gln2258Glu)
c.6928C>G (p.Gln2310Glu)
c.7135C>G (p.Gln2379Glu)
c.6436C>G (p.Gln2146Glu)
c.7183C>G (p.Gln2395Glu)
 dbSNP
16g.3727858G>TCA394550350CREBBPc.7189C>A (p.Gln2397Lys)
c.7075C>A (p.Gln2359Lys)
c.7144C>A (p.Gln2382Lys)
c.6772C>A (p.Gln2258Lys)
c.6928C>A (p.Gln2310Lys)
c.7135C>A (p.Gln2379Lys)
c.6436C>A (p.Gln2146Lys)
c.7183C>A (p.Gln2395Lys)
 dbSNP
16g.3727859A>CCA394550351CREBBPc.7188T>G (p.Asp2396Glu)
c.7074T>G (p.Asp2358Glu)
c.7143T>G (p.Asp2381Glu)
c.6771T>G (p.Asp2257Glu)
c.6927T>G (p.Asp2309Glu)
c.7134T>G (p.Asp2378Glu)
c.6435T>G (p.Asp2145Glu)
c.7182T>G (p.Asp2394Glu)
 dbSNP
16g.3727859A>GCA493393261CREBBPc.7188T>C (p.Asp2396=)
c.7074T>C (p.Asp2358=)
c.7143T>C (p.Asp2381=)
c.6771T>C (p.Asp2257=)
c.6927T>C (p.Asp2309=)
c.7134T>C (p.Asp2378=)
c.6435T>C (p.Asp2145=)
c.7182T>C (p.Asp2394=)
 dbSNP
16g.3727859A>TCA394550352CREBBPc.7188T>A (p.Asp2396Glu)
c.7074T>A (p.Asp2358Glu)
c.7143T>A (p.Asp2381Glu)
c.6771T>A (p.Asp2257Glu)
c.6927T>A (p.Asp2309Glu)
c.7134T>A (p.Asp2378Glu)
c.6435T>A (p.Asp2145Glu)
c.7182T>A (p.Asp2394Glu)
 dbSNP
16g.3727860T>ACA394550353CREBBPc.7187A>T (p.Asp2396Val)
c.7073A>T (p.Asp2358Val)
c.7142A>T (p.Asp2381Val)
c.6770A>T (p.Asp2257Val)
c.6926A>T (p.Asp2309Val)
c.7133A>T (p.Asp2378Val)
c.6434A>T (p.Asp2145Val)
c.7181A>T (p.Asp2394Val)
 dbSNP
16g.3727860T>CCA394550354CREBBPc.7187A>G (p.Asp2396Gly)
c.7073A>G (p.Asp2358Gly)
c.7142A>G (p.Asp2381Gly)
c.6770A>G (p.Asp2257Gly)
c.6926A>G (p.Asp2309Gly)
c.7133A>G (p.Asp2378Gly)
c.6434A>G (p.Asp2145Gly)
c.7181A>G (p.Asp2394Gly)
16g.3727860T>GCA394550355CREBBPc.7187A>C (p.Asp2396Ala)
c.7073A>C (p.Asp2358Ala)
c.7142A>C (p.Asp2381Ala)
c.6770A>C (p.Asp2257Ala)
c.6926A>C (p.Asp2309Ala)
c.7133A>C (p.Asp2378Ala)
c.6434A>C (p.Asp2145Ala)
c.7181A>C (p.Asp2394Ala)
 dbSNP
16g.3727861C>ACA394550356CREBBPc.7186G>T (p.Asp2396Tyr)
c.7072G>T (p.Asp2358Tyr)
c.7141G>T (p.Asp2381Tyr)
c.6769G>T (p.Asp2257Tyr)
c.6925G>T (p.Asp2309Tyr)
c.7132G>T (p.Asp2378Tyr)
c.6433G>T (p.Asp2145Tyr)
c.7180G>T (p.Asp2394Tyr)
 dbSNP
16g.3727861C>GCA394550357CREBBPc.7186G>C (p.Asp2396His)
c.7072G>C (p.Asp2358His)
c.7141G>C (p.Asp2381His)
c.6769G>C (p.Asp2257His)
c.6925G>C (p.Asp2309His)
c.7132G>C (p.Asp2378His)
c.6433G>C (p.Asp2145His)
c.7180G>C (p.Asp2394His)
 dbSNP
16g.3727861C>TCA394550358CREBBPc.7186G>A (p.Asp2396Asn)
c.7072G>A (p.Asp2358Asn)
c.7141G>A (p.Asp2381Asn)
c.6769G>A (p.Asp2257Asn)
c.6925G>A (p.Asp2309Asn)
c.7132G>A (p.Asp2378Asn)
c.6433G>A (p.Asp2145Asn)
c.7180G>A (p.Asp2394Asn)
 dbSNP gnomAD v4
16g.3727862T>ACA493393265CREBBPc.7185A>T (p.Ile2395=)
c.7071A>T (p.Ile2357=)
c.7140A>T (p.Ile2380=)
c.6768A>T (p.Ile2256=)
c.6924A>T (p.Ile2308=)
c.7131A>T (p.Ile2377=)
c.6432A>T (p.Ile2144=)
c.7179A>T (p.Ile2393=)
 dbSNP gnomAD v4
16g.3727862T>CCA394550359CREBBPc.7185A>G (p.Ile2395Met)
c.7071A>G (p.Ile2357Met)
c.7140A>G (p.Ile2380Met)
c.6768A>G (p.Ile2256Met)
c.6924A>G (p.Ile2308Met)
c.7131A>G (p.Ile2377Met)
c.6432A>G (p.Ile2144Met)
c.7179A>G (p.Ile2393Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727862T>GCA493393266CREBBPc.7185A>C (p.Ile2395=)
c.7071A>C (p.Ile2357=)
c.7140A>C (p.Ile2380=)
c.6768A>C (p.Ile2256=)
c.6924A>C (p.Ile2308=)
c.7131A>C (p.Ile2377=)
c.6432A>C (p.Ile2144=)
c.7179A>C (p.Ile2393=)
16g.3727862T=CA2202928373CREBBPc.7185A= (p.Ile2395=)
c.7071A= (p.Ile2357=)
c.7140A= (p.Ile2380=)
c.6768A= (p.Ile2256=)
c.6924A= (p.Ile2308=)
c.7131A= (p.Ile2377=)
c.6432A= (p.Ile2144=)
c.7179A= (p.Ile2393=)
16g.3727863A=CA2202928374CREBBPc.7184T= (p.Ile2395=)
c.7070T= (p.Ile2357=)
c.7139T= (p.Ile2380=)
c.6767T= (p.Ile2256=)
c.6923T= (p.Ile2308=)
c.7130T= (p.Ile2377=)
c.6431T= (p.Ile2144=)
c.7178T= (p.Ile2393=)
16g.3727863A>CCA394550360CREBBPc.7184T>G (p.Ile2395Arg)
c.7070T>G (p.Ile2357Arg)
c.7139T>G (p.Ile2380Arg)
c.6767T>G (p.Ile2256Arg)
c.6923T>G (p.Ile2308Arg)
c.7130T>G (p.Ile2377Arg)
c.6431T>G (p.Ile2144Arg)
c.7178T>G (p.Ile2393Arg)
16g.3727863A>GCA7868939CREBBPc.7184T>C (p.Ile2395Thr)
c.7070T>C (p.Ile2357Thr)
c.7139T>C (p.Ile2380Thr)
c.6767T>C (p.Ile2256Thr)
c.6923T>C (p.Ile2308Thr)
c.7130T>C (p.Ile2377Thr)
c.6431T>C (p.Ile2144Thr)
c.7178T>C (p.Ile2393Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727863A>TCA394550361CREBBPc.7184T>A (p.Ile2395Lys)
c.7070T>A (p.Ile2357Lys)
c.7139T>A (p.Ile2380Lys)
c.6767T>A (p.Ile2256Lys)
c.6923T>A (p.Ile2308Lys)
c.7130T>A (p.Ile2377Lys)
c.6431T>A (p.Ile2144Lys)
c.7178T>A (p.Ile2393Lys)
 dbSNP
16g.3727864T>ACA394550362CREBBPc.7183A>T (p.Ile2395Leu)
c.7069A>T (p.Ile2357Leu)
c.7138A>T (p.Ile2380Leu)
c.6766A>T (p.Ile2256Leu)
c.6922A>T (p.Ile2308Leu)
c.7129A>T (p.Ile2377Leu)
c.6430A>T (p.Ile2144Leu)
c.7177A>T (p.Ile2393Leu)
16g.3727864T>CCA394550363CREBBPc.7183A>G (p.Ile2395Val)
c.7069A>G (p.Ile2357Val)
c.7138A>G (p.Ile2380Val)
c.6766A>G (p.Ile2256Val)
c.6922A>G (p.Ile2308Val)
c.7129A>G (p.Ile2377Val)
c.6430A>G (p.Ile2144Val)
c.7177A>G (p.Ile2393Val)
 dbSNP gnomAD v4
16g.3727864T>GCA394550364CREBBPc.7183A>C (p.Ile2395Leu)
c.7069A>C (p.Ile2357Leu)
c.7138A>C (p.Ile2380Leu)
c.6766A>C (p.Ile2256Leu)
c.6922A>C (p.Ile2308Leu)
c.7129A>C (p.Ile2377Leu)
c.6430A>C (p.Ile2144Leu)
c.7177A>C (p.Ile2393Leu)
16g.3727864T=CA2202928375CREBBPc.7183A= (p.Ile2395=)
c.7069A= (p.Ile2357=)
c.7138A= (p.Ile2380=)
c.6766A= (p.Ile2256=)
c.6922A= (p.Ile2308=)
c.7129A= (p.Ile2377=)
c.6430A= (p.Ile2144=)
c.7177A= (p.Ile2393=)
16g.3727865G>ACA276971046CREBBPc.7182C>T (p.Ser2394=)
c.7068C>T (p.Ser2356=)
c.7137C>T (p.Ser2379=)
c.6765C>T (p.Ser2255=)
c.6921C>T (p.Ser2307=)
c.7128C>T (p.Ser2376=)
c.6429C>T (p.Ser2143=)
c.7176C>T (p.Ser2392=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3727865G>CCA493393269CREBBPc.7182C>G (p.Ser2394=)
c.7068C>G (p.Ser2356=)
c.7137C>G (p.Ser2379=)
c.6765C>G (p.Ser2255=)
c.6921C>G (p.Ser2307=)
c.7128C>G (p.Ser2376=)
c.6429C>G (p.Ser2143=)
c.7176C>G (p.Ser2392=)
 dbSNP
16g.3727865G=CA2202928376CREBBPc.7182C= (p.Ser2394=)
c.7068C= (p.Ser2356=)
c.7137C= (p.Ser2379=)
c.6765C= (p.Ser2255=)
c.6921C= (p.Ser2307=)
c.7128C= (p.Ser2376=)
c.6429C= (p.Ser2143=)
c.7176C= (p.Ser2392=)
16g.3727865G>TCA493393271CREBBPc.7182C>A (p.Ser2394=)
c.7068C>A (p.Ser2356=)
c.7137C>A (p.Ser2379=)
c.6765C>A (p.Ser2255=)
c.6921C>A (p.Ser2307=)
c.7128C>A (p.Ser2376=)
c.6429C>A (p.Ser2143=)
c.7176C>A (p.Ser2392=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727866G>ACA394550365CREBBPc.7181C>T (p.Ser2394Phe)
c.7067C>T (p.Ser2356Phe)
c.7136C>T (p.Ser2379Phe)
c.6764C>T (p.Ser2255Phe)
c.6920C>T (p.Ser2307Phe)
c.7127C>T (p.Ser2376Phe)
c.6428C>T (p.Ser2143Phe)
c.7175C>T (p.Ser2392Phe)
 dbSNP
16g.3727866G>CCA394550366CREBBPc.7181C>G (p.Ser2394Cys)
c.7067C>G (p.Ser2356Cys)
c.7136C>G (p.Ser2379Cys)
c.6764C>G (p.Ser2255Cys)
c.6920C>G (p.Ser2307Cys)
c.7127C>G (p.Ser2376Cys)
c.6428C>G (p.Ser2143Cys)
c.7175C>G (p.Ser2392Cys)
 dbSNP
16g.3727866G>TCA394550367CREBBPc.7181C>A (p.Ser2394Tyr)
c.7067C>A (p.Ser2356Tyr)
c.7136C>A (p.Ser2379Tyr)
c.6764C>A (p.Ser2255Tyr)
c.6920C>A (p.Ser2307Tyr)
c.7127C>A (p.Ser2376Tyr)
c.6428C>A (p.Ser2143Tyr)
c.7175C>A (p.Ser2392Tyr)
 dbSNP
16g.3727867A>CCA394550370CREBBPc.7180T>G (p.Ser2394Ala)
c.7066T>G (p.Ser2356Ala)
c.7135T>G (p.Ser2379Ala)
c.6763T>G (p.Ser2255Ala)
c.6919T>G (p.Ser2307Ala)
c.7126T>G (p.Ser2376Ala)
c.6427T>G (p.Ser2143Ala)
c.7174T>G (p.Ser2392Ala)
16g.3727867A>GCA394550368CREBBPc.7180T>C (p.Ser2394Pro)
c.7066T>C (p.Ser2356Pro)
c.7135T>C (p.Ser2379Pro)
c.6763T>C (p.Ser2255Pro)
c.6919T>C (p.Ser2307Pro)
c.7126T>C (p.Ser2376Pro)
c.6427T>C (p.Ser2143Pro)
c.7174T>C (p.Ser2392Pro)
16g.3727867A>TCA394550369CREBBPc.7180T>A (p.Ser2394Thr)
c.7066T>A (p.Ser2356Thr)
c.7135T>A (p.Ser2379Thr)
c.6763T>A (p.Ser2255Thr)
c.6919T>A (p.Ser2307Thr)
c.7126T>A (p.Ser2376Thr)
c.6427T>A (p.Ser2143Thr)
c.7174T>A (p.Ser2392Thr)
16g.3727868G>ACA493393223CREBBPc.7179C>T (p.Ser2393=)
c.7065C>T (p.Ser2355=)
c.7134C>T (p.Ser2378=)
c.6762C>T (p.Ser2254=)
c.6918C>T (p.Ser2306=)
c.7125C>T (p.Ser2375=)
c.6426C>T (p.Ser2142=)
c.7173C>T (p.Ser2391=)
 dbSNP
16g.3727868G>CCA394550371CREBBPc.7179C>G (p.Ser2393Arg)
c.7065C>G (p.Ser2355Arg)
c.7134C>G (p.Ser2378Arg)
c.6762C>G (p.Ser2254Arg)
c.6918C>G (p.Ser2306Arg)
c.7125C>G (p.Ser2375Arg)
c.6426C>G (p.Ser2142Arg)
c.7173C>G (p.Ser2391Arg)
 dbSNP
16g.3727868G>TCA394550372CREBBPc.7179C>A (p.Ser2393Arg)
c.7065C>A (p.Ser2355Arg)
c.7134C>A (p.Ser2378Arg)
c.6762C>A (p.Ser2254Arg)
c.6918C>A (p.Ser2306Arg)
c.7125C>A (p.Ser2375Arg)
c.6426C>A (p.Ser2142Arg)
c.7173C>A (p.Ser2391Arg)
16g.3727869C>ACA394550373CREBBPc.7178G>T (p.Ser2393Ile)
c.7064G>T (p.Ser2355Ile)
c.7133G>T (p.Ser2378Ile)
c.6761G>T (p.Ser2254Ile)
c.6917G>T (p.Ser2306Ile)
c.7124G>T (p.Ser2375Ile)
c.6425G>T (p.Ser2142Ile)
c.7172G>T (p.Ser2391Ile)
 dbSNP
16g.3727869C=CA2202928377CREBBPc.7178G= (p.Ser2393=)
c.7064G= (p.Ser2355=)
c.7133G= (p.Ser2378=)
c.6761G= (p.Ser2254=)
c.6917G= (p.Ser2306=)
c.7124G= (p.Ser2375=)
c.6425G= (p.Ser2142=)
c.7172G= (p.Ser2391=)
16g.3727869C>GCA7868940CREBBPc.7178G>C (p.Ser2393Thr)
c.7064G>C (p.Ser2355Thr)
c.7133G>C (p.Ser2378Thr)
c.6761G>C (p.Ser2254Thr)
c.6917G>C (p.Ser2306Thr)
c.7124G>C (p.Ser2375Thr)
c.6425G>C (p.Ser2142Thr)
c.7172G>C (p.Ser2391Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727869C>TCA394550374CREBBPc.7178G>A (p.Ser2393Asn)
c.7064G>A (p.Ser2355Asn)
c.7133G>A (p.Ser2378Asn)
c.6761G>A (p.Ser2254Asn)
c.6917G>A (p.Ser2306Asn)
c.7124G>A (p.Ser2375Asn)
c.6425G>A (p.Ser2142Asn)
c.7172G>A (p.Ser2391Asn)
 dbSNP
16g.3727870T>ACA394550375CREBBPc.7177A>T (p.Ser2393Cys)
c.7063A>T (p.Ser2355Cys)
c.7132A>T (p.Ser2378Cys)
c.6760A>T (p.Ser2254Cys)
c.6916A>T (p.Ser2306Cys)
c.7123A>T (p.Ser2375Cys)
c.6424A>T (p.Ser2142Cys)
c.7171A>T (p.Ser2391Cys)
16g.3727870T>CCA276971051CREBBPc.7177A>G (p.Ser2393Gly)
c.7063A>G (p.Ser2355Gly)
c.7132A>G (p.Ser2378Gly)
c.6760A>G (p.Ser2254Gly)
c.6916A>G (p.Ser2306Gly)
c.7123A>G (p.Ser2375Gly)
c.6424A>G (p.Ser2142Gly)
c.7171A>G (p.Ser2391Gly)
 ClinVar dbSNP
16g.3727870T>GCA394550376CREBBPc.7177A>C (p.Ser2393Arg)
c.7063A>C (p.Ser2355Arg)
c.7132A>C (p.Ser2378Arg)
c.6760A>C (p.Ser2254Arg)
c.6916A>C (p.Ser2306Arg)
c.7123A>C (p.Ser2375Arg)
c.6424A>C (p.Ser2142Arg)
c.7171A>C (p.Ser2391Arg)
16g.3727870T=CA2202928378CREBBPc.7177A= (p.Ser2393=)
c.7063A= (p.Ser2355=)
c.7132A= (p.Ser2378=)
c.6760A= (p.Ser2254=)
c.6916A= (p.Ser2306=)
c.7123A= (p.Ser2375=)
c.6424A= (p.Ser2142=)
c.7171A= (p.Ser2391=)
16g.3727871G>ACA493393227CREBBPc.7176C>T (p.Ala2392=)
c.7062C>T (p.Ala2354=)
c.7131C>T (p.Ala2377=)
c.6759C>T (p.Ala2253=)
c.6915C>T (p.Ala2305=)
c.7122C>T (p.Ala2374=)
c.6423C>T (p.Ala2141=)
c.7170C>T (p.Ala2390=)
 dbSNP gnomAD v2 gnomAD v4
16g.3727871G>CCA493393229CREBBPc.7176C>G (p.Ala2392=)
c.7062C>G (p.Ala2354=)
c.7131C>G (p.Ala2377=)
c.6759C>G (p.Ala2253=)
c.6915C>G (p.Ala2305=)
c.7122C>G (p.Ala2374=)
c.6423C>G (p.Ala2141=)
c.7170C>G (p.Ala2390=)
 dbSNP
16g.3727871G=CA2202928379CREBBPc.7176C= (p.Ala2392=)
c.7062C= (p.Ala2354=)
c.7131C= (p.Ala2377=)
c.6759C= (p.Ala2253=)
c.6915C= (p.Ala2305=)
c.7122C= (p.Ala2374=)
c.6423C= (p.Ala2141=)
c.7170C= (p.Ala2390=)
16g.3727871G>TCA493393234CREBBPc.7176C>A (p.Ala2392=)
c.7062C>A (p.Ala2354=)
c.7131C>A (p.Ala2377=)
c.6759C>A (p.Ala2253=)
c.6915C>A (p.Ala2305=)
c.7122C>A (p.Ala2374=)
c.6423C>A (p.Ala2141=)
c.7170C>A (p.Ala2390=)
16g.3727872G>ACA394550377CREBBPc.7175C>T (p.Ala2392Val)
c.7061C>T (p.Ala2354Val)
c.7130C>T (p.Ala2377Val)
c.6758C>T (p.Ala2253Val)
c.6914C>T (p.Ala2305Val)
c.7121C>T (p.Ala2374Val)
c.6422C>T (p.Ala2141Val)
c.7169C>T (p.Ala2390Val)
 dbSNP COSMIC
16g.3727872G>CCA394550378CREBBPc.7175C>G (p.Ala2392Gly)
c.7061C>G (p.Ala2354Gly)
c.7130C>G (p.Ala2377Gly)
c.6758C>G (p.Ala2253Gly)
c.6914C>G (p.Ala2305Gly)
c.7121C>G (p.Ala2374Gly)
c.6422C>G (p.Ala2141Gly)
c.7169C>G (p.Ala2390Gly)
 dbSNP
16g.3727872G>TCA394550379CREBBPc.7175C>A (p.Ala2392Asp)
c.7061C>A (p.Ala2354Asp)
c.7130C>A (p.Ala2377Asp)
c.6758C>A (p.Ala2253Asp)
c.6914C>A (p.Ala2305Asp)
c.7121C>A (p.Ala2374Asp)
c.6422C>A (p.Ala2141Asp)
c.7169C>A (p.Ala2390Asp)
16g.3727873C>ACA394550380CREBBPc.7174G>T (p.Ala2392Ser)
c.7060G>T (p.Ala2354Ser)
c.7129G>T (p.Ala2377Ser)
c.6757G>T (p.Ala2253Ser)
c.6913G>T (p.Ala2305Ser)
c.7120G>T (p.Ala2374Ser)
c.6421G>T (p.Ala2141Ser)
c.7168G>T (p.Ala2390Ser)
 dbSNP
16g.3727873C>GCA394550381CREBBPc.7174G>C (p.Ala2392Pro)
c.7060G>C (p.Ala2354Pro)
c.7129G>C (p.Ala2377Pro)
c.6757G>C (p.Ala2253Pro)
c.6913G>C (p.Ala2305Pro)
c.7120G>C (p.Ala2374Pro)
c.6421G>C (p.Ala2141Pro)
c.7168G>C (p.Ala2390Pro)
 dbSNP
16g.3727873C>TCA394550382CREBBPc.7174G>A (p.Ala2392Thr)
c.7060G>A (p.Ala2354Thr)
c.7129G>A (p.Ala2377Thr)
c.6757G>A (p.Ala2253Thr)
c.6913G>A (p.Ala2305Thr)
c.7120G>A (p.Ala2374Thr)
c.6421G>A (p.Ala2141Thr)
c.7168G>A (p.Ala2390Thr)
 dbSNP
16g.3727874C>ACA394550383CREBBPc.7173G>T (p.Met2391Ile)
c.7059G>T (p.Met2353Ile)
c.7128G>T (p.Met2376Ile)
c.6756G>T (p.Met2252Ile)
c.6912G>T (p.Met2304Ile)
c.7119G>T (p.Met2373Ile)
c.6420G>T (p.Met2140Ile)
c.7167G>T (p.Met2389Ile)
 dbSNP
16g.3727874C>GCA394550384CREBBPc.7173G>C (p.Met2391Ile)
c.7059G>C (p.Met2353Ile)
c.7128G>C (p.Met2376Ile)
c.6756G>C (p.Met2252Ile)
c.6912G>C (p.Met2304Ile)
c.7119G>C (p.Met2373Ile)
c.6420G>C (p.Met2140Ile)
c.7167G>C (p.Met2389Ile)
 dbSNP
16g.3727874C>TCA394550385CREBBPc.7173G>A (p.Met2391Ile)
c.7059G>A (p.Met2353Ile)
c.7128G>A (p.Met2376Ile)
c.6756G>A (p.Met2252Ile)
c.6912G>A (p.Met2304Ile)
c.7119G>A (p.Met2373Ile)
c.6420G>A (p.Met2140Ile)
c.7167G>A (p.Met2389Ile)
 dbSNP gnomAD v4
16g.3727875A>CCA394550386CREBBPc.7172T>G (p.Met2391Arg)
c.7058T>G (p.Met2353Arg)
c.7127T>G (p.Met2376Arg)
c.6755T>G (p.Met2252Arg)
c.6911T>G (p.Met2304Arg)
c.7118T>G (p.Met2373Arg)
c.6419T>G (p.Met2140Arg)
c.7166T>G (p.Met2389Arg)
 dbSNP
16g.3727875A>GCA394550387CREBBPc.7172T>C (p.Met2391Thr)
c.7058T>C (p.Met2353Thr)
c.7127T>C (p.Met2376Thr)
c.6755T>C (p.Met2252Thr)
c.6911T>C (p.Met2304Thr)
c.7118T>C (p.Met2373Thr)
c.6419T>C (p.Met2140Thr)
c.7166T>C (p.Met2389Thr)
 dbSNP
16g.3727875A>TCA394550388CREBBPc.7172T>A (p.Met2391Lys)
c.7058T>A (p.Met2353Lys)
c.7127T>A (p.Met2376Lys)
c.6755T>A (p.Met2252Lys)
c.6911T>A (p.Met2304Lys)
c.7118T>A (p.Met2373Lys)
c.6419T>A (p.Met2140Lys)
c.7166T>A (p.Met2389Lys)
 dbSNP
16g.3727876T>ACA394550390CREBBPc.7171A>T (p.Met2391Leu)
c.7057A>T (p.Met2353Leu)
c.7126A>T (p.Met2376Leu)
c.6754A>T (p.Met2252Leu)
c.6910A>T (p.Met2304Leu)
c.7117A>T (p.Met2373Leu)
c.6418A>T (p.Met2140Leu)
c.7165A>T (p.Met2389Leu)
 dbSNP gnomAD v2
16g.3727876T>CCA394550391CREBBPc.7171A>G (p.Met2391Val)
c.7057A>G (p.Met2353Val)
c.7126A>G (p.Met2376Val)
c.6754A>G (p.Met2252Val)
c.6910A>G (p.Met2304Val)
c.7117A>G (p.Met2373Val)
c.6418A>G (p.Met2140Val)
c.7165A>G (p.Met2389Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727876T>GCA394550389CREBBPc.7171A>C (p.Met2391Leu)
c.7057A>C (p.Met2353Leu)
c.7126A>C (p.Met2376Leu)
c.6754A>C (p.Met2252Leu)
c.6910A>C (p.Met2304Leu)
c.7117A>C (p.Met2373Leu)
c.6418A>C (p.Met2140Leu)
c.7165A>C (p.Met2389Leu)
 dbSNP
16g.3727876T=CA2202928380CREBBPc.7171A= (p.Met2391=)
c.7057A= (p.Met2353=)
c.7126A= (p.Met2376=)
c.6754A= (p.Met2252=)
c.6910A= (p.Met2304=)
c.7117A= (p.Met2373=)
c.6418A= (p.Met2140=)
c.7165A= (p.Met2389=)
16g.3727877G>ACA493393246CREBBPc.7170C>T (p.Thr2390=)
c.7056C>T (p.Thr2352=)
c.7125C>T (p.Thr2375=)
c.6753C>T (p.Thr2251=)
c.6909C>T (p.Thr2303=)
c.7116C>T (p.Thr2372=)
c.6417C>T (p.Thr2139=)
c.7164C>T (p.Thr2388=)
16g.3727877G>CCA493393249CREBBPc.7170C>G (p.Thr2390=)
c.7056C>G (p.Thr2352=)
c.7125C>G (p.Thr2375=)
c.6753C>G (p.Thr2251=)
c.6909C>G (p.Thr2303=)
c.7116C>G (p.Thr2372=)
c.6417C>G (p.Thr2139=)
c.7164C>G (p.Thr2388=)
16g.3727877G>TCA493393248CREBBPc.7170C>A (p.Thr2390=)
c.7056C>A (p.Thr2352=)
c.7125C>A (p.Thr2375=)
c.6753C>A (p.Thr2251=)
c.6909C>A (p.Thr2303=)
c.7116C>A (p.Thr2372=)
c.6417C>A (p.Thr2139=)
c.7164C>A (p.Thr2388=)
16g.3727878G>ACA394550394CREBBPc.7169C>T (p.Thr2390Ile)
c.7055C>T (p.Thr2352Ile)
c.7124C>T (p.Thr2375Ile)
c.6752C>T (p.Thr2251Ile)
c.6908C>T (p.Thr2303Ile)
c.7115C>T (p.Thr2372Ile)
c.6416C>T (p.Thr2139Ile)
c.7163C>T (p.Thr2388Ile)
 dbSNP
16g.3727878G>CCA394550392CREBBPc.7169C>G (p.Thr2390Ser)
c.7055C>G (p.Thr2352Ser)
c.7124C>G (p.Thr2375Ser)
c.6752C>G (p.Thr2251Ser)
c.6908C>G (p.Thr2303Ser)
c.7115C>G (p.Thr2372Ser)
c.6416C>G (p.Thr2139Ser)
c.7163C>G (p.Thr2388Ser)
 dbSNP
16g.3727878G>TCA394550393CREBBPc.7169C>A (p.Thr2390Asn)
c.7055C>A (p.Thr2352Asn)
c.7124C>A (p.Thr2375Asn)
c.6752C>A (p.Thr2251Asn)
c.6908C>A (p.Thr2303Asn)
c.7115C>A (p.Thr2372Asn)
c.6416C>A (p.Thr2139Asn)
c.7163C>A (p.Thr2388Asn)
 COSMIC
16g.3727879T>ACA394550395CREBBPc.7168A>T (p.Thr2390Ser)
c.7054A>T (p.Thr2352Ser)
c.7123A>T (p.Thr2375Ser)
c.6751A>T (p.Thr2251Ser)
c.6907A>T (p.Thr2303Ser)
c.7114A>T (p.Thr2372Ser)
c.6415A>T (p.Thr2139Ser)
c.7162A>T (p.Thr2388Ser)
 dbSNP
16g.3727879T>CCA394550396CREBBPc.7168A>G (p.Thr2390Ala)
c.7054A>G (p.Thr2352Ala)
c.7123A>G (p.Thr2375Ala)
c.6751A>G (p.Thr2251Ala)
c.6907A>G (p.Thr2303Ala)
c.7114A>G (p.Thr2372Ala)
c.6415A>G (p.Thr2139Ala)
c.7162A>G (p.Thr2388Ala)
16g.3727879T>GCA394550397CREBBPc.7168A>C (p.Thr2390Pro)
c.7054A>C (p.Thr2352Pro)
c.7123A>C (p.Thr2375Pro)
c.6751A>C (p.Thr2251Pro)
c.6907A>C (p.Thr2303Pro)
c.7114A>C (p.Thr2372Pro)
c.6415A>C (p.Thr2139Pro)
c.7162A>C (p.Thr2388Pro)
 dbSNP
16g.3727880G>ACA493393257CREBBPc.7167C>T (p.Val2389=)
c.7053C>T (p.Val2351=)
c.7122C>T (p.Val2374=)
c.6750C>T (p.Val2250=)
c.6906C>T (p.Val2302=)
c.7113C>T (p.Val2371=)
c.6414C>T (p.Val2138=)
c.7161C>T (p.Val2387=)
 dbSNP
16g.3727880G>CCA493393259CREBBPc.7167C>G (p.Val2389=)
c.7053C>G (p.Val2351=)
c.7122C>G (p.Val2374=)
c.6750C>G (p.Val2250=)
c.6906C>G (p.Val2302=)
c.7113C>G (p.Val2371=)
c.6414C>G (p.Val2138=)
c.7161C>G (p.Val2387=)
 dbSNP gnomAD v4
16g.3727880G>TCA493393260CREBBPc.7167C>A (p.Val2389=)
c.7053C>A (p.Val2351=)
c.7122C>A (p.Val2374=)
c.6750C>A (p.Val2250=)
c.6906C>A (p.Val2302=)
c.7113C>A (p.Val2371=)
c.6414C>A (p.Val2138=)
c.7161C>A (p.Val2387=)
 dbSNP
16g.3727881A>CCA394550398CREBBPc.7166T>G (p.Val2389Gly)
c.7052T>G (p.Val2351Gly)
c.7121T>G (p.Val2374Gly)
c.6749T>G (p.Val2250Gly)
c.6905T>G (p.Val2302Gly)
c.7112T>G (p.Val2371Gly)
c.6413T>G (p.Val2138Gly)
c.7160T>G (p.Val2387Gly)
 dbSNP
16g.3727881A>GCA394550399CREBBPc.7166T>C (p.Val2389Ala)
c.7052T>C (p.Val2351Ala)
c.7121T>C (p.Val2374Ala)
c.6749T>C (p.Val2250Ala)
c.6905T>C (p.Val2302Ala)
c.7112T>C (p.Val2371Ala)
c.6413T>C (p.Val2138Ala)
c.7160T>C (p.Val2387Ala)
 dbSNP
16g.3727881A>TCA394550400CREBBPc.7166T>A (p.Val2389Asp)
c.7052T>A (p.Val2351Asp)
c.7121T>A (p.Val2374Asp)
c.6749T>A (p.Val2250Asp)
c.6905T>A (p.Val2302Asp)
c.7112T>A (p.Val2371Asp)
c.6413T>A (p.Val2138Asp)
c.7160T>A (p.Val2387Asp)
 dbSNP
16g.3727882C>ACA394550401CREBBPc.7165G>T (p.Val2389Phe)
c.7051G>T (p.Val2351Phe)
c.7120G>T (p.Val2374Phe)
c.6748G>T (p.Val2250Phe)
c.6904G>T (p.Val2302Phe)
c.7111G>T (p.Val2371Phe)
c.6412G>T (p.Val2138Phe)
c.7159G>T (p.Val2387Phe)
 dbSNP
16g.3727882C>GCA394550403CREBBPc.7165G>C (p.Val2389Leu)
c.7051G>C (p.Val2351Leu)
c.7120G>C (p.Val2374Leu)
c.6748G>C (p.Val2250Leu)
c.6904G>C (p.Val2302Leu)
c.7111G>C (p.Val2371Leu)
c.6412G>C (p.Val2138Leu)
c.7159G>C (p.Val2387Leu)
 dbSNP
16g.3727882C>TCA394550402CREBBPc.7165G>A (p.Val2389Ile)
c.7051G>A (p.Val2351Ile)
c.7120G>A (p.Val2374Ile)
c.6748G>A (p.Val2250Ile)
c.6904G>A (p.Val2302Ile)
c.7111G>A (p.Val2371Ile)
c.6412G>A (p.Val2138Ile)
c.7159G>A (p.Val2387Ile)
 dbSNP gnomAD v4
16g.3727883T>ACA493393263CREBBPc.7164A>T (p.Ala2388=)
c.7050A>T (p.Ala2350=)
c.7119A>T (p.Ala2373=)
c.6747A>T (p.Ala2249=)
c.6903A>T (p.Ala2301=)
c.7110A>T (p.Ala2370=)
c.6411A>T (p.Ala2137=)
c.7158A>T (p.Ala2386=)
 dbSNP gnomAD v4
16g.3727883T>CCA7868941CREBBPc.7164A>G (p.Ala2388=)
c.7050A>G (p.Ala2350=)
c.7119A>G (p.Ala2373=)
c.6747A>G (p.Ala2249=)
c.6903A>G (p.Ala2301=)
c.7110A>G (p.Ala2370=)
c.6411A>G (p.Ala2137=)
c.7158A>G (p.Ala2386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727883T>GCA493393264CREBBPc.7164A>C (p.Ala2388=)
c.7050A>C (p.Ala2350=)
c.7119A>C (p.Ala2373=)
c.6747A>C (p.Ala2249=)
c.6903A>C (p.Ala2301=)
c.7110A>C (p.Ala2370=)
c.6411A>C (p.Ala2137=)
c.7158A>C (p.Ala2386=)
 dbSNP gnomAD v4
16g.3727883T=CA2202928381CREBBPc.7164A= (p.Ala2388=)
c.7050A= (p.Ala2350=)
c.7119A= (p.Ala2373=)
c.6747A= (p.Ala2249=)
c.6903A= (p.Ala2301=)
c.7110A= (p.Ala2370=)
c.6411A= (p.Ala2137=)
c.7158A= (p.Ala2386=)
16g.3727884G>ACA394550404CREBBPc.7163C>T (p.Ala2388Val)
c.7049C>T (p.Ala2350Val)
c.7118C>T (p.Ala2373Val)
c.6746C>T (p.Ala2249Val)
c.6902C>T (p.Ala2301Val)
c.7109C>T (p.Ala2370Val)
c.6410C>T (p.Ala2137Val)
c.7157C>T (p.Ala2386Val)
 dbSNP gnomAD v4
16g.3727884G>CCA394550405CREBBPc.7163C>G (p.Ala2388Gly)
c.7049C>G (p.Ala2350Gly)
c.7118C>G (p.Ala2373Gly)
c.6746C>G (p.Ala2249Gly)
c.6902C>G (p.Ala2301Gly)
c.7109C>G (p.Ala2370Gly)
c.6410C>G (p.Ala2137Gly)
c.7157C>G (p.Ala2386Gly)
 dbSNP
16g.3727884G=CA2202928382CREBBPc.7163C= (p.Ala2388=)
c.7049C= (p.Ala2350=)
c.7118C= (p.Ala2373=)
c.6746C= (p.Ala2249=)
c.6902C= (p.Ala2301=)
c.7109C= (p.Ala2370=)
c.6410C= (p.Ala2137=)
c.7157C= (p.Ala2386=)
16g.3727884G>TCA394550406CREBBPc.7163C>A (p.Ala2388Glu)
c.7049C>A (p.Ala2350Glu)
c.7118C>A (p.Ala2373Glu)
c.6746C>A (p.Ala2249Glu)
c.6902C>A (p.Ala2301Glu)
c.7109C>A (p.Ala2370Glu)
c.6410C>A (p.Ala2137Glu)
c.7157C>A (p.Ala2386Glu)
 dbSNP
16g.3727885C>ACA394550407CREBBPc.7162G>T (p.Ala2388Ser)
c.7048G>T (p.Ala2350Ser)
c.7117G>T (p.Ala2373Ser)
c.6745G>T (p.Ala2249Ser)
c.6901G>T (p.Ala2301Ser)
c.7108G>T (p.Ala2370Ser)
c.6409G>T (p.Ala2137Ser)
c.7156G>T (p.Ala2386Ser)
 dbSNP
16g.3727885C=CA2202928383CREBBPc.7162G= (p.Ala2388=)
c.7048G= (p.Ala2350=)
c.7117G= (p.Ala2373=)
c.6745G= (p.Ala2249=)
c.6901G= (p.Ala2301=)
c.7108G= (p.Ala2370=)
c.6409G= (p.Ala2137=)
c.7156G= (p.Ala2386=)
16g.3727885C>GCA394550408CREBBPc.7162G>C (p.Ala2388Pro)
c.7048G>C (p.Ala2350Pro)
c.7117G>C (p.Ala2373Pro)
c.6745G>C (p.Ala2249Pro)
c.6901G>C (p.Ala2301Pro)
c.7108G>C (p.Ala2370Pro)
c.6409G>C (p.Ala2137Pro)
c.7156G>C (p.Ala2386Pro)
 dbSNP
16g.3727885C>TCA7868942CREBBPc.7162G>A (p.Ala2388Thr)
c.7048G>A (p.Ala2350Thr)
c.7117G>A (p.Ala2373Thr)
c.6745G>A (p.Ala2249Thr)
c.6901G>A (p.Ala2301Thr)
c.7108G>A (p.Ala2370Thr)
c.6409G>A (p.Ala2137Thr)
c.7156G>A (p.Ala2386Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727886G>ACA493393268CREBBPc.7161C>T (p.Leu2387=)
c.7047C>T (p.Leu2349=)
c.7116C>T (p.Leu2372=)
c.6744C>T (p.Leu2248=)
c.6900C>T (p.Leu2300=)
c.7107C>T (p.Leu2369=)
c.6408C>T (p.Leu2136=)
c.7155C>T (p.Leu2385=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3727886G>CCA493393270CREBBPc.7161C>G (p.Leu2387=)
c.7047C>G (p.Leu2349=)
c.7116C>G (p.Leu2372=)
c.6744C>G (p.Leu2248=)
c.6900C>G (p.Leu2300=)
c.7107C>G (p.Leu2369=)
c.6408C>G (p.Leu2136=)
c.7155C>G (p.Leu2385=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727886G=CA2202928384CREBBPc.7161C= (p.Leu2387=)
c.7047C= (p.Leu2349=)
c.7116C= (p.Leu2372=)
c.6744C= (p.Leu2248=)
c.6900C= (p.Leu2300=)
c.7107C= (p.Leu2369=)
c.6408C= (p.Leu2136=)
c.7155C= (p.Leu2385=)
16g.3727886G>TCA493393272CREBBPc.7161C>A (p.Leu2387=)
c.7047C>A (p.Leu2349=)
c.7116C>A (p.Leu2372=)
c.6744C>A (p.Leu2248=)
c.6900C>A (p.Leu2300=)
c.7107C>A (p.Leu2369=)
c.6408C>A (p.Leu2136=)
c.7155C>A (p.Leu2385=)
 dbSNP
16g.3727887A=CA2202928385CREBBPc.7160T= (p.Leu2387=)
c.7046T= (p.Leu2349=)
c.7115T= (p.Leu2372=)
c.6743T= (p.Leu2248=)
c.6899T= (p.Leu2300=)
c.7106T= (p.Leu2369=)
c.6407T= (p.Leu2136=)
c.7154T= (p.Leu2385=)
16g.3727887A>CCA276971066CREBBPc.7160T>G (p.Leu2387Arg)
c.7046T>G (p.Leu2349Arg)
c.7115T>G (p.Leu2372Arg)
c.6743T>G (p.Leu2248Arg)
c.6899T>G (p.Leu2300Arg)
c.7106T>G (p.Leu2369Arg)
c.6407T>G (p.Leu2136Arg)
c.7154T>G (p.Leu2385Arg)
 dbSNP
16g.3727887A>GCA394550409CREBBPc.7160T>C (p.Leu2387Pro)
c.7046T>C (p.Leu2349Pro)
c.7115T>C (p.Leu2372Pro)
c.6743T>C (p.Leu2248Pro)
c.6899T>C (p.Leu2300Pro)
c.7106T>C (p.Leu2369Pro)
c.6407T>C (p.Leu2136Pro)
c.7154T>C (p.Leu2385Pro)
 dbSNP
16g.3727887A>TCA394550410CREBBPc.7160T>A (p.Leu2387His)
c.7046T>A (p.Leu2349His)
c.7115T>A (p.Leu2372His)
c.6743T>A (p.Leu2248His)
c.6899T>A (p.Leu2300His)
c.7106T>A (p.Leu2369His)
c.6407T>A (p.Leu2136His)
c.7154T>A (p.Leu2385His)
 dbSNP
16g.3727888G>ACA394550411CREBBPc.7159C>T (p.Leu2387Phe)
c.7045C>T (p.Leu2349Phe)
c.7114C>T (p.Leu2372Phe)
c.6742C>T (p.Leu2248Phe)
c.6898C>T (p.Leu2300Phe)
c.7105C>T (p.Leu2369Phe)
c.6406C>T (p.Leu2136Phe)
c.7153C>T (p.Leu2385Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.3727888G>CCA394550412CREBBPc.7159C>G (p.Leu2387Val)
c.7045C>G (p.Leu2349Val)
c.7114C>G (p.Leu2372Val)
c.6742C>G (p.Leu2248Val)
c.6898C>G (p.Leu2300Val)
c.7105C>G (p.Leu2369Val)
c.6406C>G (p.Leu2136Val)
c.7153C>G (p.Leu2385Val)
 dbSNP gnomAD v4
16g.3727888G=CA2202928386CREBBPc.7159C= (p.Leu2387=)
c.7045C= (p.Leu2349=)
c.7114C= (p.Leu2372=)
c.6742C= (p.Leu2248=)
c.6898C= (p.Leu2300=)
c.7105C= (p.Leu2369=)
c.6406C= (p.Leu2136=)
c.7153C= (p.Leu2385=)
16g.3727888G>TCA394550413CREBBPc.7159C>A (p.Leu2387Ile)
c.7045C>A (p.Leu2349Ile)
c.7114C>A (p.Leu2372Ile)
c.6742C>A (p.Leu2248Ile)
c.6898C>A (p.Leu2300Ile)
c.7105C>A (p.Leu2369Ile)
c.6406C>A (p.Leu2136Ile)
c.7153C>A (p.Leu2385Ile)
16g.3727889T>ACA493393275CREBBPc.7158A>T (p.Gly2386=)
c.7044A>T (p.Gly2348=)
c.7113A>T (p.Gly2371=)
c.6741A>T (p.Gly2247=)
c.6897A>T (p.Gly2299=)
c.7104A>T (p.Gly2368=)
c.6405A>T (p.Gly2135=)
c.7152A>T (p.Gly2384=)
 dbSNP
16g.3727889T>CCA493393276CREBBPc.7158A>G (p.Gly2386=)
c.7044A>G (p.Gly2348=)
c.7113A>G (p.Gly2371=)
c.6741A>G (p.Gly2247=)
c.6897A>G (p.Gly2299=)
c.7104A>G (p.Gly2368=)
c.6405A>G (p.Gly2135=)
c.7152A>G (p.Gly2384=)
 dbSNP
16g.3727889T>GCA493393277CREBBPc.7158A>C (p.Gly2386=)
c.7044A>C (p.Gly2348=)
c.7113A>C (p.Gly2371=)
c.6741A>C (p.Gly2247=)
c.6897A>C (p.Gly2299=)
c.7104A>C (p.Gly2368=)
c.6405A>C (p.Gly2135=)
c.7152A>C (p.Gly2384=)
 dbSNP
16g.3727890C>ACA394550414CREBBPc.7157G>T (p.Gly2386Val)
c.7043G>T (p.Gly2348Val)
c.7112G>T (p.Gly2371Val)
c.6740G>T (p.Gly2247Val)
c.6896G>T (p.Gly2299Val)
c.7103G>T (p.Gly2368Val)
c.6404G>T (p.Gly2135Val)
c.7151G>T (p.Gly2384Val)
 dbSNP
16g.3727890C=CA2202928387CREBBPc.7157G= (p.Gly2386=)
c.7043G= (p.Gly2348=)
c.7112G= (p.Gly2371=)
c.6740G= (p.Gly2247=)
c.6896G= (p.Gly2299=)
c.7103G= (p.Gly2368=)
c.6404G= (p.Gly2135=)
c.7151G= (p.Gly2384=)
16g.3727890C>GCA394550415CREBBPc.7157G>C (p.Gly2386Ala)
c.7043G>C (p.Gly2348Ala)
c.7112G>C (p.Gly2371Ala)
c.6740G>C (p.Gly2247Ala)
c.6896G>C (p.Gly2299Ala)
c.7103G>C (p.Gly2368Ala)
c.6404G>C (p.Gly2135Ala)
c.7151G>C (p.Gly2384Ala)
 dbSNP
16g.3727890C>TCA394550416CREBBPc.7157G>A (p.Gly2386Glu)
c.7043G>A (p.Gly2348Glu)
c.7112G>A (p.Gly2371Glu)
c.6740G>A (p.Gly2247Glu)
c.6896G>A (p.Gly2299Glu)
c.7103G>A (p.Gly2368Glu)
c.6404G>A (p.Gly2135Glu)
c.7151G>A (p.Gly2384Glu)
 dbSNP
16g.3727891C>ACA394550417CREBBPc.7156G>T (p.Gly2386Ter)
c.7042G>T (p.Gly2348Ter)
c.7111G>T (p.Gly2371Ter)
c.6739G>T (p.Gly2247Ter)
c.6895G>T (p.Gly2299Ter)
c.7102G>T (p.Gly2368Ter)
c.6403G>T (p.Gly2135Ter)
c.7150G>T (p.Gly2384Ter)
16g.3727891C=CA2202928388CREBBPc.7156G= (p.Gly2386=)
c.7042G= (p.Gly2348=)
c.7111G= (p.Gly2371=)
c.6739G= (p.Gly2247=)
c.6895G= (p.Gly2299=)
c.7102G= (p.Gly2368=)
c.6403G= (p.Gly2135=)
c.7150G= (p.Gly2384=)
16g.3727891C>GCA394550418CREBBPc.7156G>C (p.Gly2386Arg)
c.7042G>C (p.Gly2348Arg)
c.7111G>C (p.Gly2371Arg)
c.6739G>C (p.Gly2247Arg)
c.6895G>C (p.Gly2299Arg)
c.7102G>C (p.Gly2368Arg)
c.6403G>C (p.Gly2135Arg)
c.7150G>C (p.Gly2384Arg)
16g.3727891C>TCA394550419CREBBPc.7156G>A (p.Gly2386Arg)
c.7042G>A (p.Gly2348Arg)
c.7111G>A (p.Gly2371Arg)
c.6739G>A (p.Gly2247Arg)
c.6895G>A (p.Gly2299Arg)
c.7102G>A (p.Gly2368Arg)
c.6403G>A (p.Gly2135Arg)
c.7150G>A (p.Gly2384Arg)
 ClinVar dbSNP gnomAD v4
16g.3727892G>ACA276971067CREBBPc.7155C>T (p.Pro2385=)
c.7041C>T (p.Pro2347=)
c.7110C>T (p.Pro2370=)
c.6738C>T (p.Pro2246=)
c.6894C>T (p.Pro2298=)
c.7101C>T (p.Pro2367=)
c.6402C>T (p.Pro2134=)
c.7149C>T (p.Pro2383=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727892G>CCA7868943CREBBPc.7155C>G (p.Pro2385=)
c.7041C>G (p.Pro2347=)
c.7110C>G (p.Pro2370=)
c.6738C>G (p.Pro2246=)
c.6894C>G (p.Pro2298=)
c.7101C>G (p.Pro2367=)
c.6402C>G (p.Pro2134=)
c.7149C>G (p.Pro2383=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727892G=CA2202928389CREBBPc.7155C= (p.Pro2385=)
c.7041C= (p.Pro2347=)
c.7110C= (p.Pro2370=)
c.6738C= (p.Pro2246=)
c.6894C= (p.Pro2298=)
c.7101C= (p.Pro2367=)
c.6402C= (p.Pro2134=)
c.7149C= (p.Pro2383=)
16g.3727892G>TCA493393281CREBBPc.7155C>A (p.Pro2385=)
c.7041C>A (p.Pro2347=)
c.7110C>A (p.Pro2370=)
c.6738C>A (p.Pro2246=)
c.6894C>A (p.Pro2298=)
c.7101C>A (p.Pro2367=)
c.6402C>A (p.Pro2134=)
c.7149C>A (p.Pro2383=)
 dbSNP gnomAD v4
16g.3727892_3727893delinsTACA645575153CREBBPc.7154_7155delinsTA (p.Pro2385Leu)
c.7040_7041delinsTA (p.Pro2347Leu)
c.7109_7110delinsTA (p.Pro2370Leu)
c.6737_6738delinsTA (p.Pro2246Leu)
c.6893_6894delinsTA (p.Pro2298Leu)
c.7100_7101delinsTA (p.Pro2367Leu)
c.6401_6402delinsTA (p.Pro2134Leu)
c.7148_7149delinsTA (p.Pro2383Leu)
 COSMIC
16g.3727898_3727917dupCA2631401257CREBBPc.7136_7155dup (p.Gly2386ArgfsTer17)
c.7022_7041dup (p.Gly2348ArgfsTer17)
c.7091_7110dup (p.Gly2371ArgfsTer17)
c.6719_6738dup (p.Gly2247ArgfsTer17)
c.6875_6894dup (p.Gly2299ArgfsTer17)
c.7082_7101dup (p.Gly2368ArgfsTer17)
c.6383_6402dup (p.Gly2135ArgfsTer17)
c.7130_7149dup (p.Gly2384ArgfsTer17)
 gnomAD v4
16g.3727893G>ACA394550420CREBBPc.7154C>T (p.Pro2385Leu)
c.7040C>T (p.Pro2347Leu)
c.7109C>T (p.Pro2370Leu)
c.6737C>T (p.Pro2246Leu)
c.6893C>T (p.Pro2298Leu)
c.7100C>T (p.Pro2367Leu)
c.6401C>T (p.Pro2134Leu)
c.7148C>T (p.Pro2383Leu)
 dbSNP
16g.3727893G>CCA7868944CREBBPc.7154C>G (p.Pro2385Arg)
c.7040C>G (p.Pro2347Arg)
c.7109C>G (p.Pro2370Arg)
c.6737C>G (p.Pro2246Arg)
c.6893C>G (p.Pro2298Arg)
c.7100C>G (p.Pro2367Arg)
c.6401C>G (p.Pro2134Arg)
c.7148C>G (p.Pro2383Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727893G=CA2202928390CREBBPc.7154C= (p.Pro2385=)
c.7040C= (p.Pro2347=)
c.7109C= (p.Pro2370=)
c.6737C= (p.Pro2246=)
c.6893C= (p.Pro2298=)
c.7100C= (p.Pro2367=)
c.6401C= (p.Pro2134=)
c.7148C= (p.Pro2383=)
16g.3727893G>TCA394550421CREBBPc.7154C>A (p.Pro2385His)
c.7040C>A (p.Pro2347His)
c.7109C>A (p.Pro2370His)
c.6737C>A (p.Pro2246His)
c.6893C>A (p.Pro2298His)
c.7100C>A (p.Pro2367His)
c.6401C>A (p.Pro2134His)
c.7148C>A (p.Pro2383His)
 dbSNP
16g.3727894G>ACA394550422CREBBPc.7153C>T (p.Pro2385Ser)
c.7039C>T (p.Pro2347Ser)
c.7108C>T (p.Pro2370Ser)
c.6736C>T (p.Pro2246Ser)
c.6892C>T (p.Pro2298Ser)
c.7099C>T (p.Pro2367Ser)
c.6400C>T (p.Pro2134Ser)
c.7147C>T (p.Pro2383Ser)
 dbSNP COSMIC
16g.3727894G>CCA394550423CREBBPc.7153C>G (p.Pro2385Ala)
c.7039C>G (p.Pro2347Ala)
c.7108C>G (p.Pro2370Ala)
c.6736C>G (p.Pro2246Ala)
c.6892C>G (p.Pro2298Ala)
c.7099C>G (p.Pro2367Ala)
c.6400C>G (p.Pro2134Ala)
c.7147C>G (p.Pro2383Ala)
 dbSNP
16g.3727894G>TCA394550424CREBBPc.7153C>A (p.Pro2385Thr)
c.7039C>A (p.Pro2347Thr)
c.7108C>A (p.Pro2370Thr)
c.6736C>A (p.Pro2246Thr)
c.6892C>A (p.Pro2298Thr)
c.7099C>A (p.Pro2367Thr)
c.6400C>A (p.Pro2134Thr)
c.7147C>A (p.Pro2383Thr)
 dbSNP

Number of alleles fetched